SNP Links for Gene (Select 55677) - SNP

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Select item 14915232861.

rs1491523286 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 2:127483604 (GRCh38)
2:128241180 (GRCh37)
Canonical SPDI:: NC_000002.12:127483603:CT:
Gene:: IWS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: -=0.00075/20 (TOMMO)
HGVS:: NC_000002.12:g.127483604_127483605del, NC_000002.11:g.128241180_128241181del

Select item 14915015192.

rs1491501519 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 2:127481442 (GRCh38)
2:128239018 (GRCh37)
Canonical SPDI:: NC_000002.12:127481441:AG:
Gene:: IWS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.127481442_127481443del, NC_000002.11:g.128239018_128239019del

Select item 14914517513.

rs1491451751 [Homo sapiens]

Variant type:: DEL
Alleles:: GG>- [Show Flanks]
Chromosome:: 2:127505779 (GRCh38)
2:128263355 (GRCh37)
Canonical SPDI:: NC_000002.12:127505778:GG:
Gene:: IWS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by cluster
HGVS:: NC_000002.12:g.127505779_127505780del, NC_000002.11:g.128263355_128263356del

Select item 14914127374.

rs1491412737 has merged into rs371899937 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>-,G,GGG,GGGG,GGGGG [Show Flanks]
Chromosome:: 2:127481450 (GRCh38)
2:128239026 (GRCh37)
Canonical SPDI:: NC_000002.12:127481442:GGGGGGGGG:GGGGGGG,NC_000002.12:127481442:GGGGGGGGG:GGGGGGGG,NC_000002.12:127481442:GGGGGGGGG:GGGGGGGGGG,NC_000002.12:127481442:GGGGGGGGG:GGGGGGGGGGG,NC_000002.12:127481442:GGGGGGGGG:GGGGGGGGGGGG
Gene:: IWS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGG=0./0 (ALFA)
G=0.00273/5 (Korea1K)
G=0.00379/17 (Estonian)
G=0.00895/150 (TOMMO)
HGVS:: NC_000002.12:g.127481450_127481451del, NC_000002.12:g.127481451del, NC_000002.12:g.127481451dup, NC_000002.12:g.127481450_127481451dup, NC_000002.12:g.127481449_127481451dup, NC_000002.11:g.128239026_128239027del, NC_000002.11:g.128239027del, NC_000002.11:g.128239027dup, NC_000002.11:g.128239026_128239027dup, NC_000002.11:g.128239025_128239027dup

Select item 14913931555.

rs1491393155 has merged into rs67080980 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:127492557 (GRCh38)
2:128250133 (GRCh37)
Canonical SPDI:: NC_000002.12:127492546:AAAAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:127492546:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:127492546:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:127492546:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:127492546:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:127492546:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:127492546:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
Gene:: IWS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
AA=0.15/6 (GENOME_DK)
AA=0.2194/129 (NorthernSweden)
HGVS:: NC_000002.12:g.127492557_127492560del, NC_000002.12:g.127492558_127492560del, NC_000002.12:g.127492559_127492560del, NC_000002.12:g.127492560del, NC_000002.12:g.127492560dup, NC_000002.12:g.127492559_127492560dup, NC_000002.12:g.127492553_127492560dup, NC_000002.11:g.128250133_128250136del, NC_000002.11:g.128250134_128250136del, NC_000002.11:g.128250135_128250136del, NC_000002.11:g.128250136del, NC_000002.11:g.128250136dup, NC_000002.11:g.128250135_128250136dup, NC_000002.11:g.128250129_128250136dup

Select item 14913631396.

rs1491363139 has merged into rs1292081664 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTGTGTGTG>-,TG,TGTG,TGTGTG,TGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTGTG [Show Flanks]
Chromosome:: 2:127483615 (GRCh38)
2:128241191 (GRCh37)
Canonical SPDI:: NC_000002.12:127483604:TGTGTGTGTGTGTGTGTGTG:TGTGTGTGTG,NC_000002.12:127483604:TGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTG,NC_000002.12:127483604:TGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTG,NC_000002.12:127483604:TGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTG,NC_000002.12:127483604:TGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTG,NC_000002.12:127483604:TGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTG,NC_000002.12:127483604:TGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTG
Gene:: IWS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGTG=0./0 (ALFA)
TG=0.00995/16 (Korea1K)
HGVS:: NC_000002.12:g.127483605TG[5], NC_000002.12:g.127483605TG[6], NC_000002.12:g.127483605TG[7], NC_000002.12:g.127483605TG[8], NC_000002.12:g.127483605TG[9], NC_000002.12:g.127483605TG[11], NC_000002.12:g.127483605TG[12], NC_000002.11:g.128241181TG[5], NC_000002.11:g.128241181TG[6], NC_000002.11:g.128241181TG[7], NC_000002.11:g.128241181TG[8], NC_000002.11:g.128241181TG[9], NC_000002.11:g.128241181TG[11], NC_000002.11:g.128241181TG[12]

Select item 14913595707.

rs1491359570 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 2:127494245 (GRCh38)
2:128251821 (GRCh37)
Canonical SPDI:: NC_000002.12:127494244:TA:
Gene:: IWS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000002.12:g.127494245_127494246del, NC_000002.11:g.128251821_128251822del

Select item 14913017288.

rs1491301728 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:127492546 (GRCh38)
2:128250122 (GRCh37)
Canonical SPDI:: NC_000002.12:127492545:CA:
Gene:: IWS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00025/3 (ALFA)
HGVS:: NC_000002.12:g.127492546_127492547del, NC_000002.11:g.128250122_128250123del

Select item 14912780869.

rs1491278086 [Homo sapiens]

Variant type:: INS
Alleles:: ->AAAA [Show Flanks]
Chromosome:: 2:127505779 (GRCh38)
2:128263356 (GRCh37)
Canonical SPDI:: NC_000002.12:127505779::AAAA
Gene:: IWS1 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000002.12:g.127505779_127505780insAAAA, NC_000002.11:g.128263355_128263356insAAAA

Select item 149125346210.

rs1491253462 has merged into rs57048318 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GCAC [Show Flanks]
Chromosome:: 2:127496551 (GRCh38)
2:128254128 (GRCh37)
Canonical SPDI:: NC_000002.12:127496551:CAC:CACGCAC
Gene:: IWS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACGCAC=0.00017/2 (ALFA)
CACG=0.00469/48 (GnomAD)
CACG=0.00492/64 (TOMMO)
CACG=0.0162/21 (Korea1K)
HGVS:: NC_000002.12:g.127496554_127496555insGCAC, NC_000002.11:g.128254130_128254131insGCAC

Select item 149125281711.

rs1491252817 has merged into rs11327472 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:127494255 (GRCh38)
2:128251831 (GRCh37)
Canonical SPDI:: NC_000002.12:127494245:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000002.12:127494245:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:127494245:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:127494245:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:127494245:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:127494245:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:127494245:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:127494245:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:127494245:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:127494245:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:127494245:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:127494245:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:127494245:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:127494245:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:127494245:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:127494245:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:127494245:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:127494245:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:127494245:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:127494245:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:127494245:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:127494245:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:127494245:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:127494245:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:127494245:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:127494245:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:127494245:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: IWS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
A=0.2254/1129 (1000Genomes)
HGVS:: NC_000002.12:g.127494255_127494266del, NC_000002.12:g.127494256_127494266del, NC_000002.12:g.127494257_127494266del, NC_000002.12:g.127494258_127494266del, NC_000002.12:g.127494259_127494266del, NC_000002.12:g.127494260_127494266del, NC_000002.12:g.127494261_127494266del, NC_000002.12:g.127494262_127494266del, NC_000002.12:g.127494263_127494266del, NC_000002.12:g.127494264_127494266del, NC_000002.12:g.127494265_127494266del, NC_000002.12:g.127494266del, NC_000002.12:g.127494266dup, NC_000002.12:g.127494265_127494266dup, NC_000002.12:g.127494264_127494266dup, NC_000002.12:g.127494263_127494266dup, NC_000002.12:g.127494262_127494266dup, NC_000002.12:g.127494261_127494266dup, NC_000002.12:g.127494260_127494266dup, NC_000002.12:g.127494259_127494266dup, NC_000002.12:g.127494258_127494266dup, NC_000002.12:g.127494257_127494266dup, NC_000002.12:g.127494252_127494266dup, NC_000002.12:g.127494251_127494266dup, NC_000002.12:g.127494250_127494266dup, NC_000002.12:g.127494247_127494266dup, NC_000002.12:g.127494246_127494266dup, NC_000002.11:g.128251831_128251842del, NC_000002.11:g.128251832_128251842del, NC_000002.11:g.128251833_128251842del, NC_000002.11:g.128251834_128251842del, NC_000002.11:g.128251835_128251842del, NC_000002.11:g.128251836_128251842del, NC_000002.11:g.128251837_128251842del, NC_000002.11:g.128251838_128251842del, NC_000002.11:g.128251839_128251842del, NC_000002.11:g.128251840_128251842del, NC_000002.11:g.128251841_128251842del, NC_000002.11:g.128251842del, NC_000002.11:g.128251842dup, NC_000002.11:g.128251841_128251842dup, NC_000002.11:g.128251840_128251842dup, NC_000002.11:g.128251839_128251842dup, NC_000002.11:g.128251838_128251842dup, NC_000002.11:g.128251837_128251842dup, NC_000002.11:g.128251836_128251842dup, NC_000002.11:g.128251835_128251842dup, NC_000002.11:g.128251834_128251842dup, NC_000002.11:g.128251833_128251842dup, NC_000002.11:g.128251828_128251842dup, NC_000002.11:g.128251827_128251842dup, NC_000002.11:g.128251826_128251842dup, NC_000002.11:g.128251823_128251842dup, NC_000002.11:g.128251822_128251842dup

Select item 149115410512.

rs1491154105 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 2:127510386 (GRCh38)
2:128267963 (GRCh37)
Canonical SPDI:: NC_000002.12:127510386:T:TT
Gene:: IWS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000002.12:g.127510387dup, NC_000002.11:g.128267963dup

Select item 149113710413.

rs1491137104 has merged into rs36048775 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACACACACACACACA>-,CA,CACA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACACA [Show Flanks]
Chromosome:: 2:127496566 (GRCh38)
2:128254142 (GRCh37)
Canonical SPDI:: NC_000002.12:127496550:ACACACACACACACACACACACACACACACACACA:ACACACACACACACA,NC_000002.12:127496550:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACA,NC_000002.12:127496550:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACA,NC_000002.12:127496550:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000002.12:127496550:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000002.12:127496550:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000002.12:127496550:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000002.12:127496550:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000002.12:127496550:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA,NC_000002.12:127496550:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA,NC_000002.12:127496550:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA,NC_000002.12:127496550:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA,NC_000002.12:127496550:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:127496550:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:127496550:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:127496550:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:127496550:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:127496550:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:127496550:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:127496550:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:127496550:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:127496550:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:127496550:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:127496550:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA
Gene:: IWS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACACA=0./0 (ALFA)
HGVS:: NC_000002.12:g.127496552CA[7], NC_000002.12:g.127496552CA[8], NC_000002.12:g.127496552CA[9], NC_000002.12:g.127496552CA[10], NC_000002.12:g.127496552CA[11], NC_000002.12:g.127496552CA[12], NC_000002.12:g.127496552CA[13], NC_000002.12:g.127496552CA[14], NC_000002.12:g.127496552CA[15], NC_000002.12:g.127496552CA[16], NC_000002.12:g.127496552CA[18], NC_000002.12:g.127496552CA[19], NC_000002.12:g.127496552CA[20], NC_000002.12:g.127496552CA[21], NC_000002.12:g.127496552CA[22], NC_000002.12:g.127496552CA[23], NC_000002.12:g.127496552CA[24], NC_000002.12:g.127496552CA[25], NC_000002.12:g.127496552CA[26], NC_000002.12:g.127496552CA[27], NC_000002.12:g.127496552CA[28], NC_000002.12:g.127496552CA[29], NC_000002.12:g.127496552CA[30], NC_000002.12:g.127496552CA[32], NC_000002.11:g.128254128CA[7], NC_000002.11:g.128254128CA[8], NC_000002.11:g.128254128CA[9], NC_000002.11:g.128254128CA[10], NC_000002.11:g.128254128CA[11], NC_000002.11:g.128254128CA[12], NC_000002.11:g.128254128CA[13], NC_000002.11:g.128254128CA[14], NC_000002.11:g.128254128CA[15], NC_000002.11:g.128254128CA[16], NC_000002.11:g.128254128CA[18], NC_000002.11:g.128254128CA[19], NC_000002.11:g.128254128CA[20], NC_000002.11:g.128254128CA[21], NC_000002.11:g.128254128CA[22], NC_000002.11:g.128254128CA[23], NC_000002.11:g.128254128CA[24], NC_000002.11:g.128254128CA[25], NC_000002.11:g.128254128CA[26], NC_000002.11:g.128254128CA[27], NC_000002.11:g.128254128CA[28], NC_000002.11:g.128254128CA[29], NC_000002.11:g.128254128CA[30], NC_000002.11:g.128254128CA[32]

Select item 149110445914.

rs1491104459 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 2:127496585 (GRCh38)
2:128254161 (GRCh37)
Canonical SPDI:: NC_000002.12:127496584:AT:
Gene:: IWS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.000084/1 (ALFA)
-=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.127496585_127496586del, NC_000002.11:g.128254161_128254162del

Select item 149101709715.

rs1491017097 has merged into rs11336494 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,TTTT,TTTTT,TTTTTTT,TTTTTTTT [Show Flanks]
Chromosome:: 2:127519364 (GRCh38)
2:128276940 (GRCh37)
Canonical SPDI:: NC_000002.12:127519359:TTTTTTTTTT:TTTT,NC_000002.12:127519359:TTTTTTTTTT:TTTTTTTT,NC_000002.12:127519359:TTTTTTTTTT:TTTTTTTTT,NC_000002.12:127519359:TTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:127519359:TTTTTTTTTT:TTTTTTTTTTTT
Gene:: IWS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
T=0.00655/12 (Korea1K)
T=0.067508/337 (1000Genomes)
T=0.114534/30316 (TOPMED)
T=0.15/6 (GENOME_DK)
T=0.15767/701 (Estonian)
T=0.175027/649 (TWINSUK)
T=0.193565/746 (ALSPAC)
HGVS:: NC_000002.12:g.127519364_127519369del, NC_000002.12:g.127519368_127519369del, NC_000002.12:g.127519369del, NC_000002.12:g.127519369dup, NC_000002.12:g.127519368_127519369dup, NC_000002.11:g.128276940_128276945del, NC_000002.11:g.128276944_128276945del, NC_000002.11:g.128276945del, NC_000002.11:g.128276945dup, NC_000002.11:g.128276944_128276945dup

Select item 149076635116.

rs1490766351 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:127492508 (GRCh38)
2:128250084 (GRCh37)
Canonical SPDI:: NC_000002.12:127492507:T:C
Gene:: IWS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.127492508T>C, NC_000002.11:g.128250084T>C

Select item 149074050217.

rs1490740502 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:127518583 (GRCh38)
2:128276159 (GRCh37)
Canonical SPDI:: NC_000002.12:127518582:G:A,NC_000002.12:127518582:G:T
Gene:: IWS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.00003/1 (GnomAD)
T=0.0055/92 (TOMMO)
T=0.01057/19 (Korea1K)
T=0.16963/496 (KOREAN)
HGVS:: NC_000002.12:g.127518583G>A, NC_000002.12:g.127518583G>T, NC_000002.11:g.128276159G>A, NC_000002.11:g.128276159G>T

Select item 149068787018.

rs1490687870 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:127481505 (GRCh38)
2:128239081 (GRCh37)
Canonical SPDI:: NC_000002.12:127481504:A:G
Gene:: IWS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.127481505A>G, NC_000002.11:g.128239081A>G

Select item 149058111219.

rs1490581112 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:127511972 (GRCh38)
2:128269548 (GRCh37)
Canonical SPDI:: NC_000002.12:127511971:A:G
Gene:: IWS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.127511972A>G, NC_000002.11:g.128269548A>G

Select item 149054485120.

rs1490544851 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:127494929 (GRCh38)
2:128252505 (GRCh37)
Canonical SPDI:: NC_000002.12:127494928:T:C
Gene:: IWS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.127494929T>C, NC_000002.11:g.128252505T>C, XM_006712626.4:c.1757A>G, XM_006712626.3:c.1757A>G, XM_006712626.2:c.1757A>G, XM_006712626.1:c.1757A>G, XM_005263707.4:c.1757A>G, XM_005263707.3:c.1757A>G, XM_005263707.2:c.1757A>G, XM_005263707.1:c.1757A>G, NM_017969.3:c.1742A>G, NM_017969.2:c.1742A>G, XM_017004467.3:c.1742A>G, XM_017004468.3:c.1121A>G, XM_017004468.2:c.1121A>G, XM_017004468.1:c.1121A>G, XM_011511450.2:c.1757A>G, XM_011511450.1:c.1757A>G, XR_001738828.2:n.2362A>G, XR_001738828.1:n.1959A>G, NM_001410923.1:c.1742A>G, XM_047444948.1:c.1757A>G, XP_006712689.1:p.Lys586Arg, XP_005263764.1:p.Lys586Arg, NP_060439.2:p.Lys581Arg, XP_016859956.1:p.Lys581Arg, XP_016859957.1:p.Lys374Arg, XP_011509752.1:p.Lys586Arg, XP_047300904.1:p.Lys586Arg

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