Links from Gene
Items: 1 to 20 of 891
3.
rs1486749711 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CCAG>-
[Show Flanks]
- Chromosome:
- 21:30371559
(GRCh38)
21:31743877
(GRCh37)
- Canonical SPDI:
- NC_000021.9:30371554:CCAGCCAG:CCAG
- Gene:
- KRTAP13-2 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCAGCCAG=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
4.
rs1486045736 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 21:30371932
(GRCh38)
21:31744250
(GRCh37)
- Canonical SPDI:
- NC_000021.9:30371931:C:T
- Gene:
- KRTAP13-2 (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
T=0.000016/4
(GnomAD_exomes)
- HGVS:
5.
rs1484981752 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTA>-
[Show Flanks]
- Chromosome:
- 21:30370926
(GRCh38)
21:31743244
(GRCh37)
- Canonical SPDI:
- NC_000021.9:30370924:ATTA:A
- Gene:
- KRTAP13-2 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
- HGVS:
6.
rs1483509298 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 21:30372260
(GRCh38)
21:31744578
(GRCh37)
- Canonical SPDI:
- NC_000021.9:30372259:C:A
- Gene:
- KRTAP13-2 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
7.
rs1483478143 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 21:30373307
(GRCh38)
21:31745625
(GRCh37)
- Canonical SPDI:
- NC_000021.9:30373306:A:G
- Gene:
- KRTAP13-2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
- HGVS:
8.
rs1483452583 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 21:30373473
(GRCh38)
21:31745791
(GRCh37)
- Canonical SPDI:
- NC_000021.9:30373472:A:G
- Gene:
- KRTAP13-2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000014/2
(GnomAD)
G=0.000342/1
(KOREAN)
- HGVS:
10.
rs1480341362 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,T
[Show Flanks]
- Chromosome:
- 21:30373152
(GRCh38)
21:31745470
(GRCh37)
- Canonical SPDI:
- NC_000021.9:30373151:A:C,NC_000021.9:30373151:A:T
- Gene:
- KRTAP13-2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
A=0.5/1
(SGDP_PRJ)
- HGVS:
11.
rs1480141314 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- A>-
[Show Flanks]
- Chromosome:
- 21:30374197
(GRCh38)
21:31746515
(GRCh37)
- Canonical SPDI:
- NC_000021.9:30374196:A:
- Gene:
- KRTAP13-2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
- HGVS:
12.
rs1479397819 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 21:30373419
(GRCh38)
21:31745737
(GRCh37)
- Canonical SPDI:
- NC_000021.9:30373418:T:C
- Gene:
- KRTAP13-2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
14.
rs1478091574 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 21:30373923
(GRCh38)
21:31746241
(GRCh37)
- Canonical SPDI:
- NC_000021.9:30373922:C:T
- Gene:
- KRTAP13-2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
T=0.000019/5
(TOPMED)
- HGVS:
15.
rs1476298541 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTACTCTAC>-
[Show Flanks]
- Chromosome:
- 21:30374236
(GRCh38)
21:31746554
(GRCh37)
- Canonical SPDI:
- NC_000021.9:30374227:TACTCTACGTACTCTAC:TACTCTAC
- Gene:
- KRTAP13-2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TACTCTAC=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
16.
rs1476036806 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 21:30373765
(GRCh38)
21:31746083
(GRCh37)
- Canonical SPDI:
- NC_000021.9:30373764:T:G
- Gene:
- KRTAP13-2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
17.
rs1475315324 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 21:30371878
(GRCh38)
21:31744196
(GRCh37)
- Canonical SPDI:
- NC_000021.9:30371877:A:G
- Gene:
- KRTAP13-2 (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
18.
rs1474623094 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 21:30371581
(GRCh38)
21:31743899
(GRCh37)
- Canonical SPDI:
- NC_000021.9:30371580:G:A
- Gene:
- KRTAP13-2 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000224/1
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
19.
rs1474564489 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 21:30372116
(GRCh38)
21:31744434
(GRCh37)
- Canonical SPDI:
- NC_000021.9:30372115:TT:T
- Gene:
- KRTAP13-2 (Varview)
- Functional Consequence:
- coding_sequence_variant,frameshift_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TT=0.0002/1
(
ALFA)
-=0.0002/1
(Estonian)
- HGVS:
20.
rs1471554456 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 21:30371025
(GRCh38)
21:31743343
(GRCh37)
- Canonical SPDI:
- NC_000021.9:30371024:A:G
- Gene:
- KRTAP13-2 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS: