SNP Links for Gene (Select 9015) - SNP

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Select item 14913544411.

rs1491354441 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 1:222558664 (GRCh38)
1:222732006 (GRCh37)
Canonical SPDI:: NC_000001.11:222558661:AGAG:AG
Gene:: TAF1A (Varview)
Functional Consequence:: frameshift_variant,non_coding_transcript_variant,terminator_codon_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000005/1 (GnomAD_exomes)
-=0.000009/1 (ExAC)
HGVS:: NC_000001.11:g.222558662AG[1], NC_000001.10:g.222732004AG[1], NM_005681.4:c.1350_1351del, NM_005681.3:c.1350_1351del, XM_006711612.2:c.1236_1237del, XM_006711612.1:c.1236_1237del, NM_139352.2:c.1008_1009del, XR_007064851.1:n.1557CT[1], XR_007064852.1:n.1443CT[1], NM_001201536.1:c.1350_1351del, XM_047433593.1:c.1008_1009del, XM_047433596.1:c.1008_1009del, NP_005672.1:p.Ter451IleextTer?, XP_006711675.1:p.Ter413IleextTer?, NP_647603.1:p.Ter337IleextTer?, NP_001188465.1:p.Ter451IleextTer?, XP_047289549.1:p.Ter337IleextTer?, XP_047289552.1:p.Ter337IleextTer?

Select item 14909268222.

rs1490926822 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 1:222571669 (GRCh38)
1:222745011 (GRCh37)
Canonical SPDI:: NC_000001.11:222571666:AAAA:AA
Gene:: TAF1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.222571669_222571670del, NC_000001.10:g.222745011_222745012del

Select item 14909174293.

rs1490917429 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 1:222569477 (GRCh38)
1:222742819 (GRCh37)
Canonical SPDI:: NC_000001.11:222569476:CCC:CC
Gene:: TAF1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.222569479del, NC_000001.10:g.222742821del

Select item 14908445254.

rs1490844525 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:222577682 (GRCh38)
1:222751024 (GRCh37)
Canonical SPDI:: NC_000001.11:222577681:T:A
Gene:: TAF1A (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000001.11:g.222577682T>A, NC_000001.10:g.222751024T>A

Select item 14907951595.

rs1490795159 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 1:222558191 (GRCh38)
1:222731534 (GRCh37)
Canonical SPDI:: NC_000001.11:222558191:TTTTTT:TTTTTTT
Gene:: TAF1A (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,downstream_transcript_variant,genic_downstream_transcript_variant
HGVS:: NC_000001.11:g.222558197dup, NC_000001.10:g.222731539dup, NM_139352.2:c.*114dup, XR_007064851.1:n.1676dup, XR_007064852.1:n.1562dup, NM_001201536.1:c.*114dup

Select item 14907028146.

rs1490702814 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:222588511 (GRCh38)
1:222761853 (GRCh37)
Canonical SPDI:: NC_000001.11:222588510:A:C
Gene:: TAF1A (Varview), TAF1A-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,2KB_upstream_variant,non_coding_transcript_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.222588511A>C, NC_000001.10:g.222761853A>C, XM_005273343.5:c.53T>G, XM_005273343.4:c.53T>G, XM_005273343.3:c.53T>G, XM_005273343.2:c.53T>G, XM_005273343.1:c.53T>G, NM_005681.4:c.53T>G, NM_005681.3:c.53T>G, XM_006711612.2:c.53T>G, XM_006711612.1:c.53T>G, NM_139352.2:c.-120T>G, XM_047433601.1:c.53T>G, XR_007064851.1:n.262T>G, XR_007064852.1:n.262T>G, NM_001201536.1:c.53T>G, XM_047433596.1:c.-120T>G, XM_047433599.1:c.53T>G, XP_005273400.1:p.Val18Gly, NP_005672.1:p.Val18Gly, XP_006711675.1:p.Val18Gly, XP_047289557.1:p.Val18Gly, NP_001188465.1:p.Val18Gly, XP_047289555.1:p.Val18Gly

Select item 14906365227.

rs1490636522 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:222578491 (GRCh38)
1:222751833 (GRCh37)
Canonical SPDI:: NC_000001.11:222578490:T:C
Gene:: TAF1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000001.11:g.222578491T>C, NC_000001.10:g.222751833T>C

Select item 14905911778.

rs1490591177 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:222586927 (GRCh38)
1:222760269 (GRCh37)
Canonical SPDI:: NC_000001.11:222586926:A:G
Gene:: TAF1A (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.222586927A>G, NC_000001.10:g.222760269A>G

Select item 14904878989.

rs1490487898 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:222580063 (GRCh38)
1:222753405 (GRCh37)
Canonical SPDI:: NC_000001.11:222580062:C:T
Gene:: TAF1A (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_000001.11:g.222580063C>T, NC_000001.10:g.222753405C>T

Select item 149041333710.

rs1490413337 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:222560796 (GRCh38)
1:222734138 (GRCh37)
Canonical SPDI:: NC_000001.11:222560795:G:A,NC_000001.11:222560795:G:T
Gene:: TAF1A (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.222560796G>A, NC_000001.11:g.222560796G>T, NC_000001.10:g.222734138G>A, NC_000001.10:g.222734138G>T

Select item 149035920311.

rs1490359203 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:222578846 (GRCh38)
1:222752188 (GRCh37)
Canonical SPDI:: NC_000001.11:222578845:A:T
Gene:: TAF1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.222578846A>T, NC_000001.10:g.222752188A>T

Select item 149032270112.

rs1490322701 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:222579484 (GRCh38)
1:222752826 (GRCh37)
Canonical SPDI:: NC_000001.11:222579483:C:T
Gene:: TAF1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.222579484C>T, NC_000001.10:g.222752826C>T

Select item 149024438713.

rs1490244387 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:222561470 (GRCh38)
1:222734812 (GRCh37)
Canonical SPDI:: NC_000001.11:222561469:C:T
Gene:: TAF1A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,stop_gained,coding_sequence_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_000001.11:g.222561470C>T, NC_000001.10:g.222734812C>T, NM_005681.4:c.1134G>A, NM_005681.3:c.1134G>A, XM_006711612.2:c.1020G>A, XM_006711612.1:c.1020G>A, NM_139352.2:c.792G>A, XR_007064851.1:n.1343G>A, XR_007064852.1:n.1229G>A, NM_001201536.1:c.1134G>A, XM_047433593.1:c.792G>A, XM_047433596.1:c.792G>A, NP_005672.1:p.Trp378Ter, XP_006711675.1:p.Trp340Ter, NP_647603.1:p.Trp264Ter, NP_001188465.1:p.Trp378Ter, XP_047289549.1:p.Trp264Ter, XP_047289552.1:p.Trp264Ter

Select item 149014662714.

rs1490146627 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:222577087 (GRCh38)
1:222750429 (GRCh37)
Canonical SPDI:: NC_000001.11:222577086:A:T
Gene:: TAF1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00177/10 (ALFA)
T=0.00011/3 (TOMMO)
T=0.02845/52 (Korea1K)
HGVS:: NC_000001.11:g.222577087A>T, NC_000001.10:g.222750429A>T

Select item 149009761515.

rs1490097615 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 1:222563313 (GRCh38)
1:222736655 (GRCh37)
Canonical SPDI:: NC_000001.11:222563312:A:C,NC_000001.11:222563312:A:T
Gene:: TAF1A (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.222563313A>C, NC_000001.11:g.222563313A>T, NC_000001.10:g.222736655A>C, NC_000001.10:g.222736655A>T

Select item 149003437716.

rs1490034377 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:222574555 (GRCh38)
1:222747897 (GRCh37)
Canonical SPDI:: NC_000001.11:222574554:A:G
Gene:: TAF1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.222574555A>G, NC_000001.10:g.222747897A>G

Select item 148993454917.

rs1489934549 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:222561365 (GRCh38)
1:222734707 (GRCh37)
Canonical SPDI:: NC_000001.11:222561364:T:G
Gene:: TAF1A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.222561365T>G, NC_000001.10:g.222734707T>G, NM_005681.4:c.1239A>C, NM_005681.3:c.1239A>C, XM_006711612.2:c.1125A>C, XM_006711612.1:c.1125A>C, NM_139352.2:c.897A>C, XR_007064851.1:n.1448A>C, XR_007064852.1:n.1334A>C, NM_001201536.1:c.1239A>C, XM_047433593.1:c.897A>C, XM_047433596.1:c.897A>C, NP_005672.1:p.Lys413Asn, XP_006711675.1:p.Lys375Asn, NP_647603.1:p.Lys299Asn, NP_001188465.1:p.Lys413Asn, XP_047289549.1:p.Lys299Asn, XP_047289552.1:p.Lys299Asn

Select item 148972884918.

rs1489728849 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:222586374 (GRCh38)
1:222759716 (GRCh37)
Canonical SPDI:: NC_000001.11:222586373:C:A
Gene:: TAF1A (Varview)
Functional Consequence:: intron_variant,genic_upstream_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_000001.11:g.222586374C>A, NC_000001.10:g.222759716C>A

Select item 148969719519.

rs1489697195 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:222587663 (GRCh38)
1:222761005 (GRCh37)
Canonical SPDI:: NC_000001.11:222587662:A:C
Gene:: TAF1A (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000001.11:g.222587663A>C, NC_000001.10:g.222761005A>C

Select item 148956835220.

rs1489568352 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:222561143 (GRCh38)
1:222734485 (GRCh37)
Canonical SPDI:: NC_000001.11:222561142:C:G
Gene:: TAF1A (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.222561143C>G, NC_000001.10:g.222734485C>G

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