Links from Gene
Items: 1 to 20 of 5366
1.
rs1491522763 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 1:204136403
(GRCh38)
1:204105531
(GRCh37)
- Canonical SPDI:
- NC_000001.11:204136402:GT:
- Gene:
- ETNK2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0.0259/96
(TWINSUK)
-=0.0288/111
(ALSPAC)
- HGVS:
2.
rs1491333097 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AC>-
[Show Flanks]
- Chromosome:
- 1:204152504
(GRCh38)
1:204121632
(GRCh37)
- Canonical SPDI:
- NC_000001.11:204152500:CACAC:CAC
- Gene:
- ETNK2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CAC=0./0
(
ALFA)
-=0.000064/9
(GnomAD)
-=0.000102/27
(TOPMED)
- HGVS:
3.
rs1490900190 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 1:204137589
(GRCh38)
1:204106717
(GRCh37)
- Canonical SPDI:
- NC_000001.11:204137588:C:G,NC_000001.11:204137588:C:T
- Gene:
- ETNK2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
4.
rs1490766691 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:204149288
(GRCh38)
1:204118416
(GRCh37)
- Canonical SPDI:
- NC_000001.11:204149287:G:A
- Gene:
- ETNK2 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
5.
rs1490604575 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:204148148
(GRCh38)
1:204117276
(GRCh37)
- Canonical SPDI:
- NC_000001.11:204148147:T:C
- Gene:
- ETNK2 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
C=0.000014/2
(GnomAD)
- HGVS:
6.
rs1490466486 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:204145670
(GRCh38)
1:204114798
(GRCh37)
- Canonical SPDI:
- NC_000001.11:204145669:C:T
- Gene:
- ETNK2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
T=0.000023/6
(TOPMED)
C=0.5/2
(SGDP_PRJ)
- HGVS:
7.
rs1490082198 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 1:204138154
(GRCh38)
1:204107282
(GRCh37)
- Canonical SPDI:
- NC_000001.11:204138153:A:C
- Gene:
- ETNK2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
8.
rs1490030798 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:204152656
(GRCh38)
1:204121784
(GRCh37)
- Canonical SPDI:
- NC_000001.11:204152655:C:T
- Gene:
- ETNK2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
- HGVS:
9.
rs1489866623 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:204153183
(GRCh38)
1:204122311
(GRCh37)
- Canonical SPDI:
- NC_000001.11:204153182:A:G
- Gene:
- ETNK2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
A=0.5/1
(SGDP_PRJ)
- HGVS:
11.
rs1489747127 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 1:204141370
(GRCh38)
1:204110498
(GRCh37)
- Canonical SPDI:
- NC_000001.11:204141369:C:A
- Gene:
- ETNK2 (Varview), ERLNC1 (Varview)
- Functional Consequence:
- synonymous_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa
- MAF:
- HGVS:
NC_000001.11:g.204141370C>A, NC_000001.10:g.204110498C>A, NM_018208.4:c.729G>T, NM_018208.3:c.729G>T, NM_018208.2:c.729G>T, NM_001297760.2:c.729G>T, NM_001297760.1:c.729G>T, NM_001297762.2:c.606G>T, NM_001297762.1:c.606G>T, NM_001297761.2:c.195G>T, NM_001297761.1:c.195G>T, XM_047424303.1:c.246G>T, XM_047424305.1:c.195G>T, XM_047424304.1:c.195G>T
12.
rs1489295729 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:204144103
(GRCh38)
1:204113231
(GRCh37)
- Canonical SPDI:
- NC_000001.11:204144102:A:G
- Gene:
- ETNK2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
13.
rs1489130007 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:204134945
(GRCh38)
1:204104073
(GRCh37)
- Canonical SPDI:
- NC_000001.11:204134944:C:T
- Gene:
- ETNK2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
14.
rs1489054971 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:204151246
(GRCh38)
1:204120374
(GRCh37)
- Canonical SPDI:
- NC_000001.11:204151245:C:T
- Gene:
- ETNK2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
15.
rs1488984461 has merged into rs978997142 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATAAA>-,ATAAAATAAA
[Show Flanks]
- Chromosome:
- 1:204135446
(GRCh38)
1:204104574
(GRCh37)
- Canonical SPDI:
- NC_000001.11:204135432:AAAATAAAATAAAATAAA:AAAATAAAATAAA,NC_000001.11:204135432:AAAATAAAATAAAATAAA:AAAATAAAATAAAATAAAATAAA
- Gene:
- ETNK2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAATAAAATAAA=0.00011/2
(
ALFA)
- HGVS:
16.
rs1488867181 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 1:204141011
(GRCh38)
1:204110139
(GRCh37)
- Canonical SPDI:
- NC_000001.11:204141010:A:C
- Gene:
- ETNK2 (Varview), ERLNC1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency
- MAF:
C=0.000007/1
(GnomAD)
- HGVS:
17.
rs1488866489 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:204147868
(GRCh38)
1:204116996
(GRCh37)
- Canonical SPDI:
- NC_000001.11:204147867:T:C
- Gene:
- ETNK2 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
18.
rs1488779437 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:204150662
(GRCh38)
1:204119790
(GRCh37)
- Canonical SPDI:
- NC_000001.11:204150661:G:A
- Gene:
- ETNK2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
19.
rs1488773933 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 1:204143482
(GRCh38)
1:204112610
(GRCh37)
- Canonical SPDI:
- NC_000001.11:204143481:C:A
- Gene:
- ETNK2 (Varview), ERLNC1 (Varview)
- Functional Consequence:
- intron_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
20.
rs1488656831 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AC
[Show Flanks]
- Chromosome:
- 1:204134205
(GRCh38)
1:204103334
(GRCh37)
- Canonical SPDI:
- NC_000001.11:204134205:CAC:CACAC
- Gene:
- ETNK2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
CACAC=0./0
(
ALFA)
CA=0.000007/1
(GnomAD)
- HGVS: