SNP Links for Gene (Select 101929473) - SNP

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Select item 14914662101.

rs1491466210 has merged into rs3219547 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGTGTGTGTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 11:127101826 (GRCh38)
11:126971721 (GRCh37)
Canonical SPDI:: NC_000011.10:127101804:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000011.10:127101804:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:127101804:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:127101804:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:127101804:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:127101804:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:127101804:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:127101804:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:127101804:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:127101804:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:127101804:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:127101804:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:127101804:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:127101804:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:127101804:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:127101804:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:127101804:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:127101804:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:127101804:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:127101804:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: LOC101929473 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGTGTGTGTGT=0./0 (ALFA)
TGTGTGTG=0.5/20 (GENOME_DK)
HGVS:: NC_000011.10:g.127101806GT[10], NC_000011.10:g.127101806GT[11], NC_000011.10:g.127101806GT[12], NC_000011.10:g.127101806GT[13], NC_000011.10:g.127101806GT[14], NC_000011.10:g.127101806GT[15], NC_000011.10:g.127101806GT[16], NC_000011.10:g.127101806GT[17], NC_000011.10:g.127101806GT[18], NC_000011.10:g.127101806GT[19], NC_000011.10:g.127101806GT[20], NC_000011.10:g.127101806GT[21], NC_000011.10:g.127101806GT[22], NC_000011.10:g.127101806GT[23], NC_000011.10:g.127101806GT[25], NC_000011.10:g.127101806GT[26], NC_000011.10:g.127101806GT[27], NC_000011.10:g.127101806GT[28], NC_000011.10:g.127101806GT[29], NC_000011.10:g.127101806GT[35], NC_000011.9:g.126971701GT[10], NC_000011.9:g.126971701GT[11], NC_000011.9:g.126971701GT[12], NC_000011.9:g.126971701GT[13], NC_000011.9:g.126971701GT[14], NC_000011.9:g.126971701GT[15], NC_000011.9:g.126971701GT[16], NC_000011.9:g.126971701GT[17], NC_000011.9:g.126971701GT[18], NC_000011.9:g.126971701GT[19], NC_000011.9:g.126971701GT[20], NC_000011.9:g.126971701GT[21], NC_000011.9:g.126971701GT[22], NC_000011.9:g.126971701GT[23], NC_000011.9:g.126971701GT[25], NC_000011.9:g.126971701GT[26], NC_000011.9:g.126971701GT[27], NC_000011.9:g.126971701GT[28], NC_000011.9:g.126971701GT[29], NC_000011.9:g.126971701GT[35]

Select item 14913592272.

rs1491359227 [Homo sapiens]

Variant type:: INS
Alleles:: ->TGG,TTTA [Show Flanks]
Chromosome:: 11:127070431 (GRCh38)
11:126940327 (GRCh37)
Canonical SPDI:: NC_000011.10:127070431::TGG,NC_000011.10:127070431::TTTA
Gene:: LOC101929473 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000011.10:g.127070431_127070432insTGG, NC_000011.10:g.127070431_127070432insTTTA, NC_000011.9:g.126940326_126940327insTGG, NC_000011.9:g.126940326_126940327insTTTA

Select item 14912729083.

rs1491272908 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 11:127070431 (GRCh38)
11:126940326 (GRCh37)
Canonical SPDI:: NC_000011.10:127070430:TG:
Gene:: LOC101929473 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000008/1 (GnomAD)
HGVS:: NC_000011.10:g.127070431_127070432del, NC_000011.9:g.126940326_126940327del

Select item 14912121654.

rs1491212165 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 11:127091311 (GRCh38)
11:126961206 (GRCh37)
Canonical SPDI:: NC_000011.10:127091310:GA:
Gene:: LOC101929473 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00084/10 (ALFA)
-=0.00007/1 (TOMMO)
-=0.00138/127 (GnomAD)
-=0.00685/4 (NorthernSweden)
HGVS:: NC_000011.10:g.127091311_127091312del, NC_000011.9:g.126961206_126961207del

Select item 14911777295.

rs1491177729 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 11:127101804 (GRCh38)
11:126971699 (GRCh37)
Canonical SPDI:: NC_000011.10:127101803:TT:
Gene:: LOC101929473 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000011.10:g.127101804_127101805del, NC_000011.9:g.126971699_126971700del

Select item 14910922936.

rs1491092293 has merged into rs1336894063 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>-,ATAT [Show Flanks]
Chromosome:: 11:127091358 (GRCh38)
11:126961253 (GRCh37)
Canonical SPDI:: NC_000011.10:127091349:ATATATATAT:ATATATAT,NC_000011.10:127091349:ATATATATAT:ATATATATATAT
Gene:: LOC101929473 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATAT=0./0 (ALFA)
-=0.00007/2 (TOMMO)
HGVS:: NC_000011.10:g.127091350AT[4], NC_000011.10:g.127091350AT[6], NC_000011.9:g.126961245AT[4], NC_000011.9:g.126961245AT[6]

Select item 14910668357.

rs1491066835 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->CACACATATATGTGTGTAAATATA
Chromosome:: no mapping
Canonical SPDI:

Select item 14909342758.

rs1490934275 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:127070411 (GRCh38)
11:126940306 (GRCh37)
Canonical SPDI:: NC_000011.10:127070410:T:G
Gene:: LOC101929473 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.127070411T>G, NC_000011.9:g.126940306T>G

Select item 14908839109.

rs1490883910 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:127069563 (GRCh38)
11:126939458 (GRCh37)
Canonical SPDI:: NC_000011.10:127069562:T:C
Gene:: LOC101929473 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000011.10:g.127069563T>C, NC_000011.9:g.126939458T>C

Select item 149085909210.

rs1490859092 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:127099288 (GRCh38)
11:126969183 (GRCh37)
Canonical SPDI:: NC_000011.10:127099287:T:C
Gene:: LOC101929473 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.127099288T>C, NC_000011.9:g.126969183T>C, NR_120578.1:n.305T>C

Select item 149083984111.

rs1490839841 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:127091614 (GRCh38)
11:126961509 (GRCh37)
Canonical SPDI:: NC_000011.10:127091613:C:T
Gene:: LOC101929473 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.127091614C>T, NC_000011.9:g.126961509C>T

Select item 149074033412.

rs1490740334 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:127077685 (GRCh38)
11:126947580 (GRCh37)
Canonical SPDI:: NC_000011.10:127077684:G:T
Gene:: LOC101929473 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000011.10:g.127077685G>T, NC_000011.9:g.126947580G>T

Select item 149073051313.

rs1490730513 [Homo sapiens]

Variant type:: INS
Alleles:: ->AGTGTG [Show Flanks]
Chromosome:: 11:127101274 (GRCh38)
11:126971170 (GRCh37)
Canonical SPDI:: NC_000011.10:127101274::AGTGTG
Gene:: LOC101929473 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGTGTG=0.000224/1 (ALFA)
AGTGTG=0.000014/2 (GnomAD)
AGTGTG=0.000223/1 (Estonian)
HGVS:: NC_000011.10:g.127101274_127101275insAGTGTG, NC_000011.9:g.126971169_126971170insAGTGTG, NR_120578.1:n.2291_2292insAGTGTG

Select item 149069070014.

rs1490690700 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:127076673 (GRCh38)
11:126946568 (GRCh37)
Canonical SPDI:: NC_000011.10:127076672:C:A
Gene:: LOC101929473 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000011.10:g.127076673C>A, NC_000011.9:g.126946568C>A

Select item 149061647915.

rs1490616479 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 11:127091389 (GRCh38)
11:126961284 (GRCh37)
Canonical SPDI:: NC_000011.10:127091388:T:A,NC_000011.10:127091388:T:C
Gene:: LOC101929473 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.127091389T>A, NC_000011.10:g.127091389T>C, NC_000011.9:g.126961284T>A, NC_000011.9:g.126961284T>C

Select item 149052669316.

rs1490526693 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:127077139 (GRCh38)
11:126947034 (GRCh37)
Canonical SPDI:: NC_000011.10:127077138:C:A
Gene:: LOC101929473 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.127077139C>A, NC_000011.9:g.126947034C>A

Select item 149047399017.

rs1490473990 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 11:127086715 (GRCh38)
11:126956610 (GRCh37)
Canonical SPDI:: NC_000011.10:127086714:G:C,NC_000011.10:127086714:G:T
Gene:: LOC101929473 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.127086715G>C, NC_000011.10:g.127086715G>T, NC_000011.9:g.126956610G>C, NC_000011.9:g.126956610G>T

Select item 149039326818.

rs1490393268 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:127099478 (GRCh38)
11:126969373 (GRCh37)
Canonical SPDI:: NC_000011.10:127099477:G:A
Gene:: LOC101929473 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.127099478G>A, NC_000011.9:g.126969373G>A, NR_120578.1:n.495G>A

Select item 149036263319.

rs1490362633 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:127098485 (GRCh38)
11:126968380 (GRCh37)
Canonical SPDI:: NC_000011.10:127098484:G:A
Gene:: LOC101929473 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.127098485G>A, NC_000011.9:g.126968380G>A, NR_120578.1:n.170G>A

Select item 149023359920.

rs1490233599 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:127067615 (GRCh38)
11:126937510 (GRCh37)
Canonical SPDI:: NC_000011.10:127067614:A:G
Gene:: LOC101929473 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000011.10:g.127067615A>G, NC_000011.9:g.126937510A>G

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