Links from Gene
Items: 1 to 20 of 15321
1.
rs1491432719 has merged into rs1204038026 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 9:5515934
(GRCh38)
9:5515934
(GRCh37)
- Canonical SPDI:
- NC_000009.12:5515922:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000009.12:5515922:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000009.12:5515922:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000009.12:5515922:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000009.12:5515922:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:5515922:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:5515922:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000009.12:5515922:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000009.12:5515922:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000009.12:5515922:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000009.12:5515922:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000009.12:5515922:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:5515922:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:5515922:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:5515922:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:5515922:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:5515922:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:5515922:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:5515922:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:5515922:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:5515922:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:5515922:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:5515922:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:5515922:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:5515922:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:5515922:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:5515922:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:5515922:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:5515922:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:5515922:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:5515922:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:5515922:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:5515922:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:5515922:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:5515922:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- PDCD1LG2 (Varview), LOC124902114 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000009.12:g.5515934_5515949del, NC_000009.12:g.5515935_5515949del, NC_000009.12:g.5515936_5515949del, NC_000009.12:g.5515937_5515949del, NC_000009.12:g.5515938_5515949del, NC_000009.12:g.5515939_5515949del, NC_000009.12:g.5515940_5515949del, NC_000009.12:g.5515941_5515949del, NC_000009.12:g.5515942_5515949del, NC_000009.12:g.5515943_5515949del, NC_000009.12:g.5515944_5515949del, NC_000009.12:g.5515945_5515949del, NC_000009.12:g.5515946_5515949del, NC_000009.12:g.5515947_5515949del, NC_000009.12:g.5515948_5515949del, NC_000009.12:g.5515949del, NC_000009.12:g.5515949dup, NC_000009.12:g.5515948_5515949dup, NC_000009.12:g.5515947_5515949dup, NC_000009.12:g.5515946_5515949dup, NC_000009.12:g.5515945_5515949dup, NC_000009.12:g.5515944_5515949dup, NC_000009.12:g.5515943_5515949dup, NC_000009.12:g.5515942_5515949dup, NC_000009.12:g.5515941_5515949dup, NC_000009.12:g.5515938_5515949dup, NC_000009.12:g.5515937_5515949dup, NC_000009.12:g.5515936_5515949dup, NC_000009.12:g.5515935_5515949dup, NC_000009.12:g.5515934_5515949dup, NC_000009.12:g.5515933_5515949dup, NC_000009.12:g.5515932_5515949dup, NC_000009.12:g.5515931_5515949dup, NC_000009.12:g.5515928_5515949dup, NC_000009.12:g.5515927_5515949dup, NC_000009.11:g.5515934_5515949del, NC_000009.11:g.5515935_5515949del, NC_000009.11:g.5515936_5515949del, NC_000009.11:g.5515937_5515949del, NC_000009.11:g.5515938_5515949del, NC_000009.11:g.5515939_5515949del, NC_000009.11:g.5515940_5515949del, NC_000009.11:g.5515941_5515949del, NC_000009.11:g.5515942_5515949del, NC_000009.11:g.5515943_5515949del, NC_000009.11:g.5515944_5515949del, NC_000009.11:g.5515945_5515949del, NC_000009.11:g.5515946_5515949del, NC_000009.11:g.5515947_5515949del, NC_000009.11:g.5515948_5515949del, NC_000009.11:g.5515949del, NC_000009.11:g.5515949dup, NC_000009.11:g.5515948_5515949dup, NC_000009.11:g.5515947_5515949dup, NC_000009.11:g.5515946_5515949dup, NC_000009.11:g.5515945_5515949dup, NC_000009.11:g.5515944_5515949dup, NC_000009.11:g.5515943_5515949dup, NC_000009.11:g.5515942_5515949dup, NC_000009.11:g.5515941_5515949dup, NC_000009.11:g.5515938_5515949dup, NC_000009.11:g.5515937_5515949dup, NC_000009.11:g.5515936_5515949dup, NC_000009.11:g.5515935_5515949dup, NC_000009.11:g.5515934_5515949dup, NC_000009.11:g.5515933_5515949dup, NC_000009.11:g.5515932_5515949dup, NC_000009.11:g.5515931_5515949dup, NC_000009.11:g.5515928_5515949dup, NC_000009.11:g.5515927_5515949dup
2.
rs1491354746 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C,G
[Show Flanks]
- Chromosome:
- 9:5522742
(GRCh38)
9:5522743
(GRCh37)
- Canonical SPDI:
- NC_000009.12:5522742::C,NC_000009.12:5522742::G
- Gene:
- PDCD1LG2 (Varview), LOC124902114 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
C=0.000015/4
(TOPMED)
C=0.00003/3
(GnomAD)
- HGVS:
3.
rs1491338877 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TA
[Show Flanks]
- Chromosome:
- 9:5515923
(GRCh38)
9:5515924
(GRCh37)
- Canonical SPDI:
- NC_000009.12:5515923:A:ATA
- Gene:
- PDCD1LG2 (Varview), LOC124902114 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATA=0.00025/3
(
ALFA)
AT=0.01007/276
(GnomAD)
- HGVS:
5.
rs1491252300 has merged into rs201167086 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTTTT
[Show Flanks]
- Chromosome:
- 9:5550709
(GRCh38)
9:5550709
(GRCh37)
- Canonical SPDI:
- NC_000009.12:5550699:TTTTTTTTTTTT:TTTTTTTTT,NC_000009.12:5550699:TTTTTTTTTTTT:TTTTTTTTTT,NC_000009.12:5550699:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000009.12:5550699:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000009.12:5550699:TTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000009.12:5550699:TTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000009.12:5550699:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT
- Gene:
- PDCD1LG2 (Varview), LOC124902114 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.22247/1006
(1000Genomes)
- HGVS:
NC_000009.12:g.5550709_5550711del, NC_000009.12:g.5550710_5550711del, NC_000009.12:g.5550711del, NC_000009.12:g.5550711dup, NC_000009.12:g.5550710_5550711dup, NC_000009.12:g.5550709_5550711dup, NC_000009.12:g.5550706_5550711dup, NC_000009.11:g.5550709_5550711del, NC_000009.11:g.5550710_5550711del, NC_000009.11:g.5550711del, NC_000009.11:g.5550711dup, NC_000009.11:g.5550710_5550711dup, NC_000009.11:g.5550709_5550711dup, NC_000009.11:g.5550706_5550711dup
6.
rs1491159317 has merged into rs372870447 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,A,AAA,AAAA
[Show Flanks]
- Chromosome:
- 9:5522751
(GRCh38)
9:5522751
(GRCh37)
- Canonical SPDI:
- NC_000009.12:5522741:AAAAAAAAAAA:AAAAAAAAA,NC_000009.12:5522741:AAAAAAAAAAA:AAAAAAAAAA,NC_000009.12:5522741:AAAAAAAAAAA:AAAAAAAAAAAA,NC_000009.12:5522741:AAAAAAAAAAA:AAAAAAAAAAAAA
- Gene:
- PDCD1LG2 (Varview), LOC124902114 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAA=0./0
(
ALFA)
A=0.06333/38
(NorthernSweden)
A=0.10145/391
(ALSPAC)
A=0.10275/381
(TWINSUK)
A=0.15/6
(GENOME_DK)
- HGVS:
7.
rs1491126689 has merged into rs1204038026 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 9:5515934
(GRCh38)
9:5515934
(GRCh37)
- Canonical SPDI:
- NC_000009.12:5515922:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000009.12:5515922:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000009.12:5515922:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000009.12:5515922:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000009.12:5515922:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:5515922:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:5515922:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000009.12:5515922:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000009.12:5515922:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000009.12:5515922:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000009.12:5515922:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000009.12:5515922:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:5515922:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:5515922:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:5515922:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:5515922:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:5515922:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:5515922:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:5515922:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:5515922:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:5515922:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:5515922:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:5515922:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:5515922:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:5515922:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:5515922:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:5515922:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:5515922:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:5515922:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:5515922:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:5515922:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:5515922:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:5515922:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:5515922:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:5515922:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- PDCD1LG2 (Varview), LOC124902114 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000009.12:g.5515934_5515949del, NC_000009.12:g.5515935_5515949del, NC_000009.12:g.5515936_5515949del, NC_000009.12:g.5515937_5515949del, NC_000009.12:g.5515938_5515949del, NC_000009.12:g.5515939_5515949del, NC_000009.12:g.5515940_5515949del, NC_000009.12:g.5515941_5515949del, NC_000009.12:g.5515942_5515949del, NC_000009.12:g.5515943_5515949del, NC_000009.12:g.5515944_5515949del, NC_000009.12:g.5515945_5515949del, NC_000009.12:g.5515946_5515949del, NC_000009.12:g.5515947_5515949del, NC_000009.12:g.5515948_5515949del, NC_000009.12:g.5515949del, NC_000009.12:g.5515949dup, NC_000009.12:g.5515948_5515949dup, NC_000009.12:g.5515947_5515949dup, NC_000009.12:g.5515946_5515949dup, NC_000009.12:g.5515945_5515949dup, NC_000009.12:g.5515944_5515949dup, NC_000009.12:g.5515943_5515949dup, NC_000009.12:g.5515942_5515949dup, NC_000009.12:g.5515941_5515949dup, NC_000009.12:g.5515938_5515949dup, NC_000009.12:g.5515937_5515949dup, NC_000009.12:g.5515936_5515949dup, NC_000009.12:g.5515935_5515949dup, NC_000009.12:g.5515934_5515949dup, NC_000009.12:g.5515933_5515949dup, NC_000009.12:g.5515932_5515949dup, NC_000009.12:g.5515931_5515949dup, NC_000009.12:g.5515928_5515949dup, NC_000009.12:g.5515927_5515949dup, NC_000009.11:g.5515934_5515949del, NC_000009.11:g.5515935_5515949del, NC_000009.11:g.5515936_5515949del, NC_000009.11:g.5515937_5515949del, NC_000009.11:g.5515938_5515949del, NC_000009.11:g.5515939_5515949del, NC_000009.11:g.5515940_5515949del, NC_000009.11:g.5515941_5515949del, NC_000009.11:g.5515942_5515949del, NC_000009.11:g.5515943_5515949del, NC_000009.11:g.5515944_5515949del, NC_000009.11:g.5515945_5515949del, NC_000009.11:g.5515946_5515949del, NC_000009.11:g.5515947_5515949del, NC_000009.11:g.5515948_5515949del, NC_000009.11:g.5515949del, NC_000009.11:g.5515949dup, NC_000009.11:g.5515948_5515949dup, NC_000009.11:g.5515947_5515949dup, NC_000009.11:g.5515946_5515949dup, NC_000009.11:g.5515945_5515949dup, NC_000009.11:g.5515944_5515949dup, NC_000009.11:g.5515943_5515949dup, NC_000009.11:g.5515942_5515949dup, NC_000009.11:g.5515941_5515949dup, NC_000009.11:g.5515938_5515949dup, NC_000009.11:g.5515937_5515949dup, NC_000009.11:g.5515936_5515949dup, NC_000009.11:g.5515935_5515949dup, NC_000009.11:g.5515934_5515949dup, NC_000009.11:g.5515933_5515949dup, NC_000009.11:g.5515932_5515949dup, NC_000009.11:g.5515931_5515949dup, NC_000009.11:g.5515928_5515949dup, NC_000009.11:g.5515927_5515949dup
8.
rs1491069082 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 9:5514772
(GRCh38)
9:5514772
(GRCh37)
- Canonical SPDI:
- NC_000009.12:5514770:AGA:A
- Gene:
- PDCD1LG2 (Varview), LOC124902114 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000084/1
(
ALFA)
-=0.000074/2
(TOMMO)
-=0.000124/16
(GnomAD)
- HGVS:
9.
rs1491047400 has merged into rs572807984 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAA>-,A,AA,AAAA,AAAAA,AAAAAA
[Show Flanks]
- Chromosome:
- 9:5530487
(GRCh38)
9:5530487
(GRCh37)
- Canonical SPDI:
- NC_000009.12:5530473:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000009.12:5530473:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000009.12:5530473:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:5530473:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000009.12:5530473:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000009.12:5530473:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
- Gene:
- PDCD1LG2 (Varview), LOC124902114 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAAAAA=0./0
(
ALFA)
- HGVS:
NC_000009.12:g.5530487_5530489del, NC_000009.12:g.5530488_5530489del, NC_000009.12:g.5530489del, NC_000009.12:g.5530489dup, NC_000009.12:g.5530488_5530489dup, NC_000009.12:g.5530487_5530489dup, NC_000009.11:g.5530487_5530489del, NC_000009.11:g.5530488_5530489del, NC_000009.11:g.5530489del, NC_000009.11:g.5530489dup, NC_000009.11:g.5530488_5530489dup, NC_000009.11:g.5530487_5530489dup
10.
rs1491044716 has merged into rs139524609 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAA>-,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 9:5543548
(GRCh38)
9:5543548
(GRCh37)
- Canonical SPDI:
- NC_000009.12:5543538:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000009.12:5543538:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000009.12:5543538:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000009.12:5543538:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:5543538:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:5543538:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000009.12:5543538:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000009.12:5543538:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000009.12:5543538:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:5543538:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:5543538:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:5543538:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:5543538:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:5543538:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:5543538:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:5543538:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:5543538:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- PDCD1LG2 (Varview), LOC124902114 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000009.12:g.5543548_5543560del, NC_000009.12:g.5543551_5543560del, NC_000009.12:g.5543552_5543560del, NC_000009.12:g.5543554_5543560del, NC_000009.12:g.5543555_5543560del, NC_000009.12:g.5543558_5543560del, NC_000009.12:g.5543559_5543560del, NC_000009.12:g.5543560del, NC_000009.12:g.5543560dup, NC_000009.12:g.5543559_5543560dup, NC_000009.12:g.5543558_5543560dup, NC_000009.12:g.5543557_5543560dup, NC_000009.12:g.5543555_5543560dup, NC_000009.12:g.5543554_5543560dup, NC_000009.12:g.5543553_5543560dup, NC_000009.12:g.5543547_5543560dup, NC_000009.12:g.5543560_5543561insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.5543548_5543560del, NC_000009.11:g.5543551_5543560del, NC_000009.11:g.5543552_5543560del, NC_000009.11:g.5543554_5543560del, NC_000009.11:g.5543555_5543560del, NC_000009.11:g.5543558_5543560del, NC_000009.11:g.5543559_5543560del, NC_000009.11:g.5543560del, NC_000009.11:g.5543560dup, NC_000009.11:g.5543559_5543560dup, NC_000009.11:g.5543558_5543560dup, NC_000009.11:g.5543557_5543560dup, NC_000009.11:g.5543555_5543560dup, NC_000009.11:g.5543554_5543560dup, NC_000009.11:g.5543553_5543560dup, NC_000009.11:g.5543547_5543560dup, NC_000009.11:g.5543560_5543561insAAAAAAAAAAAAAAAAAAAAAAAAAAA
11.
rs1490999571 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 9:5530226
(GRCh38)
9:5530226
(GRCh37)
- Canonical SPDI:
- NC_000009.12:5530225:A:T
- Gene:
- PDCD1LG2 (Varview), LOC124902114 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
12.
rs1490960140 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 9:5562212
(GRCh38)
9:5562212
(GRCh37)
- Canonical SPDI:
- NC_000009.12:5562211:T:G
- Gene:
- PDCD1LG2 (Varview), LOC124902114 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
13.
rs1490950860 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 9:5517371
(GRCh38)
9:5517371
(GRCh37)
- Canonical SPDI:
- NC_000009.12:5517370:T:G
- Gene:
- PDCD1LG2 (Varview), LOC124902114 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000011/3
(TOPMED)
- HGVS:
14.
rs1490890144 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 9:5543781
(GRCh38)
9:5543781
(GRCh37)
- Canonical SPDI:
- NC_000009.12:5543780:G:A,NC_000009.12:5543780:G:C
- Gene:
- PDCD1LG2 (Varview), LOC124902114 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
15.
rs1490860623 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 9:5544684
(GRCh38)
9:5544684
(GRCh37)
- Canonical SPDI:
- NC_000009.12:5544683:T:C
- Gene:
- PDCD1LG2 (Varview), LOC124902114 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
16.
rs1490814218 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 9:5545673
(GRCh38)
9:5545673
(GRCh37)
- Canonical SPDI:
- NC_000009.12:5545672:A:G
- Gene:
- PDCD1LG2 (Varview), LOC124902114 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
17.
rs1490792307 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:5552056
(GRCh38)
9:5552056
(GRCh37)
- Canonical SPDI:
- NC_000009.12:5552055:G:A
- Gene:
- PDCD1LG2 (Varview), LOC124902114 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.00003/8
(TOPMED)
- HGVS:
18.
rs1490767133 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:5551016
(GRCh38)
9:5551016
(GRCh37)
- Canonical SPDI:
- NC_000009.12:5551015:G:A
- Gene:
- PDCD1LG2 (Varview), LOC124902114 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
19.
rs1490733713 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 9:5565749
(GRCh38)
9:5565749
(GRCh37)
- Canonical SPDI:
- NC_000009.12:5565748:T:A,NC_000009.12:5565748:T:C
- Gene:
- PDCD1LG2 (Varview), LOC124902114 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000014/2
(GnomAD)
A=0.000684/2
(KOREAN)
- HGVS:
20.
rs1490703428 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 9:5566768
(GRCh38)
9:5566768
(GRCh37)
- Canonical SPDI:
- NC_000009.12:5566767:T:A
- Gene:
- PDCD1LG2 (Varview), LOC124902114 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS: