SNP Links for Gene (Select 138474) - SNP

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Items: 1 to 20 of 2591

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Select item 14905541441.

rs1490554144 [Homo sapiens]

Variant type:: DELINS
Alleles:: CATTAT>- [Show Flanks]
Chromosome:: 9:32631592 (GRCh38)
9:32631590 (GRCh37)
Canonical SPDI:: NC_000009.12:32631584:TCATTATCATTAT:TCATTAT
Gene:: TAF1L (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
Validated:: by frequency,by alfa,by cluster
MAF:: TCATTAT=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.32631586CATTAT[1], NC_000009.11:g.32631584CATTAT[1], NM_153809.2:c.3984TAATGA[1], NP_722516.1:p.Asp1330_Asn1331del

Select item 14901342872.

rs1490134287 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:32629783 (GRCh38)
9:32629781 (GRCh37)
Canonical SPDI:: NC_000009.12:32629782:G:A
Gene:: TAF1L (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000021/3 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000009.12:g.32629783G>A, NC_000009.11:g.32629781G>A, NM_153809.2:c.*316C>T

Select item 14901056983.

rs1490105698 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 9:32631076 (GRCh38)
9:32631074 (GRCh37)
Canonical SPDI:: NC_000009.12:32631075:C:G
Gene:: TAF1L (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.32631076C>G, NC_000009.11:g.32631074C>G, NM_153809.2:c.4504G>C, NP_722516.1:p.Glu1502Gln

Select item 14895909494.

rs1489590949 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 9:32631904 (GRCh38)
9:32631902 (GRCh37)
Canonical SPDI:: NC_000009.12:32631903:G:T
Gene:: TAF1L (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000009.12:g.32631904G>T, NC_000009.11:g.32631902G>T, NM_153809.2:c.3676C>A, NP_722516.1:p.Gln1226Lys

Select item 14894378595.

rs1489437859 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 9:32630493 (GRCh38)
9:32630491 (GRCh37)
Canonical SPDI:: NC_000009.12:32630492:G:C,NC_000009.12:32630492:G:T
Gene:: TAF1L (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000009.12:g.32630493G>C, NC_000009.12:g.32630493G>T, NC_000009.11:g.32630491G>C, NC_000009.11:g.32630491G>T, NM_153809.2:c.5087C>G, NM_153809.2:c.5087C>A, NP_722516.1:p.Ser1696Cys, NP_722516.1:p.Ser1696Tyr

Select item 14894003746.

rs1489400374 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:32630062 (GRCh38)
9:32630060 (GRCh37)
Canonical SPDI:: NC_000009.12:32630061:C:T
Gene:: TAF1L (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.32630062C>T, NC_000009.11:g.32630060C>T, NM_153809.2:c.*37G>A

Select item 14890815817.

rs1489081581 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 9:32634095 (GRCh38)
9:32634093 (GRCh37)
Canonical SPDI:: NC_000009.12:32634094:C:A,NC_000009.12:32634094:C:T
Gene:: TAF1L (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.32634095C>A, NC_000009.12:g.32634095C>T, NC_000009.11:g.32634093C>A, NC_000009.11:g.32634093C>T, NM_153809.2:c.1485G>T, NM_153809.2:c.1485G>A

Select item 14890156148.

rs1489015614 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 9:32637296 (GRCh38)
9:32637294 (GRCh37)
Canonical SPDI:: NC_000009.12:32637295:T:A
Gene:: TAF1L (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.32637296T>A, NC_000009.11:g.32637294T>A

Select item 14885955599.

rs1488595559 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:32635348 (GRCh38)
9:32635346 (GRCh37)
Canonical SPDI:: NC_000009.12:32635347:T:C
Gene:: TAF1L (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.32635348T>C, NC_000009.11:g.32635346T>C, NM_153809.2:c.232A>G, NP_722516.1:p.Thr78Ala

Select item 148840138610.

rs1488401386 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:32637228 (GRCh38)
9:32637226 (GRCh37)
Canonical SPDI:: NC_000009.12:32637227:T:C
Gene:: TAF1L (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.32637228T>C, NC_000009.11:g.32637226T>C

Select item 148785481711.

rs1487854817 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:32636922 (GRCh38)
9:32636920 (GRCh37)
Canonical SPDI:: NC_000009.12:32636921:T:C
Gene:: TAF1L (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.32636922T>C, NC_000009.11:g.32636920T>C

Select item 148750576212.

rs1487505762 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:32629584 (GRCh38)
9:32629582 (GRCh37)
Canonical SPDI:: NC_000009.12:32629583:A:G
Gene:: TAF1L (Varview)
Functional Consequence:: 3_prime_UTR_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_000009.12:g.32629584A>G, NC_000009.11:g.32629582A>G, NM_153809.2:c.*515T>C

Select item 148731810413.

rs1487318104 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:32635156 (GRCh38)
9:32635154 (GRCh37)
Canonical SPDI:: NC_000009.12:32635155:C:T
Gene:: TAF1L (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.0003/1 (KOREAN)
T=0.0005/1 (Korea1K)
HGVS:: NC_000009.12:g.32635156C>T, NC_000009.11:g.32635154C>T, NM_153809.2:c.424G>A, NP_722516.1:p.Asp142Asn

Select item 148712089014.

rs1487120890 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 9:32633033 (GRCh38)
9:32633031 (GRCh37)
Canonical SPDI:: NC_000009.12:32633032:T:A,NC_000009.12:32633032:T:C
Gene:: TAF1L (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000009.12:g.32633033T>A, NC_000009.12:g.32633033T>C, NC_000009.11:g.32633031T>A, NC_000009.11:g.32633031T>C, NM_153809.2:c.2547A>T, NM_153809.2:c.2547A>G, NP_722516.1:p.Ile849Met

Select item 148700070215.

rs1487000702 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 9:32629567 (GRCh38)
9:32629565 (GRCh37)
Canonical SPDI:: NC_000009.12:32629566:G:T
Gene:: TAF1L (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.32629567G>T, NC_000009.11:g.32629565G>T, NM_153809.2:c.*532C>A

Select item 148662388616.

rs1486623886 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 9:32630007 (GRCh38)
9:32630005 (GRCh37)
Canonical SPDI:: NC_000009.12:32630006:C:G,NC_000009.12:32630006:C:T
Gene:: TAF1L (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00034/1 (KOREAN)
T=0.00055/1 (Korea1K)
HGVS:: NC_000009.12:g.32630007C>G, NC_000009.12:g.32630007C>T, NC_000009.11:g.32630005C>G, NC_000009.11:g.32630005C>T, NM_153809.2:c.*92G>C, NM_153809.2:c.*92G>A

Select item 148615990217.

rs1486159902 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:32635732 (GRCh38)
9:32635730 (GRCh37)
Canonical SPDI:: NC_000009.12:32635731:C:T
Gene:: TAF1L (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000016/2 (GnomAD)
T=0.000106/2 (TOMMO)
HGVS:: NC_000009.12:g.32635732C>T, NC_000009.11:g.32635730C>T

Select item 148608730018.

rs1486087300 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 9:32637663 (GRCh38)
9:32637661 (GRCh37)
Canonical SPDI:: NC_000009.12:32637662:T:A,NC_000009.12:32637662:T:C
Gene:: TAF1L (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000066/1 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000009.12:g.32637663T>A, NC_000009.12:g.32637663T>C, NC_000009.11:g.32637661T>A, NC_000009.11:g.32637661T>C

Select item 148606273019.

rs1486062730 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:32635298 (GRCh38)
9:32635296 (GRCh37)
Canonical SPDI:: NC_000009.12:32635297:T:C
Gene:: TAF1L (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.32635298T>C, NC_000009.11:g.32635296T>C, NM_153809.2:c.282A>G

Select item 148570990020.

rs1485709900 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 9:32628992 (GRCh38)
9:32628990 (GRCh37)
Canonical SPDI:: NC_000009.12:32628991:C:A
Gene:: TAF1L (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000447/2 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000446/2 (Estonian)
HGVS:: NC_000009.12:g.32628992C>A, NC_000009.11:g.32628990C>A

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