Links from Gene
Items: 1 to 20 of 1000
1.
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:
2.
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:
3.
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:
4.
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:
6.
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:
7.
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:
8.
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:
9.
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:
10.
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:
11.
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:
12.
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:
13.
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:
14.
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:
15.
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:
16.
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:
17.
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:
18.
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:
19.
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:
20.
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: