Links from Gene
Items: 1 to 20 of 286
1.
rs1491488132 has merged into rs139200050 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT>-,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
[Show Flanks]
- Chromosome:
- 18:47025519
(GRCh38)
18:44551890
(GRCh37)
- Canonical SPDI:
- NC_000018.10:47025502:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGT,NC_000018.10:47025502:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT,NC_000018.10:47025502:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000018.10:47025502:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000018.10:47025502:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000018.10:47025502:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000018.10:47025502:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000018.10:47025502:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000018.10:47025502:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000018.10:47025502:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000018.10:47025502:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000018.10:47025502:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000018.10:47025502:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000018.10:47025502:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000018.10:47025502:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000018.10:47025502:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000018.10:47025502:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
- Gene:
- KATNAL2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTGTGTGTGTGTGTGTGTGT=0./0
(
ALFA)
-=0.175/7
(GENOME_DK)
- HGVS:
NC_000018.10:g.47025503GT[8], NC_000018.10:g.47025503GT[10], NC_000018.10:g.47025503GT[11], NC_000018.10:g.47025503GT[12], NC_000018.10:g.47025503GT[13], NC_000018.10:g.47025503GT[14], NC_000018.10:g.47025503GT[15], NC_000018.10:g.47025503GT[16], NC_000018.10:g.47025503GT[17], NC_000018.10:g.47025503GT[18], NC_000018.10:g.47025503GT[19], NC_000018.10:g.47025503GT[20], NC_000018.10:g.47025503GT[21], NC_000018.10:g.47025503GT[22], NC_000018.10:g.47025503GT[24], NC_000018.10:g.47025503GT[25], NC_000018.10:g.47025503GT[26], NC_000018.9:g.44551874GT[8], NC_000018.9:g.44551874GT[10], NC_000018.9:g.44551874GT[11], NC_000018.9:g.44551874GT[12], NC_000018.9:g.44551874GT[13], NC_000018.9:g.44551874GT[14], NC_000018.9:g.44551874GT[15], NC_000018.9:g.44551874GT[16], NC_000018.9:g.44551874GT[17], NC_000018.9:g.44551874GT[18], NC_000018.9:g.44551874GT[19], NC_000018.9:g.44551874GT[20], NC_000018.9:g.44551874GT[21], NC_000018.9:g.44551874GT[22], NC_000018.9:g.44551874GT[24], NC_000018.9:g.44551874GT[25], NC_000018.9:g.44551874GT[26]
2.
rs1491454018 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AG>-
[Show Flanks]
- Chromosome:
- 18:47025502
(GRCh38)
18:44551873
(GRCh37)
- Canonical SPDI:
- NC_000018.10:47025501:AG:
- Gene:
- KATNAL2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00051/6
(
ALFA)
-=0.00004/1
(TOMMO)
- HGVS:
3.
rs1490997808 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 18:47025448
(GRCh38)
18:44551819
(GRCh37)
- Canonical SPDI:
- NC_000018.10:47025447:C:T
- Gene:
- KATNAL2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000061/1
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000071/2
(TOMMO)
- HGVS:
4.
rs1490179389 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 18:47024725
(GRCh38)
18:44551096
(GRCh37)
- Canonical SPDI:
- NC_000018.10:47024724:T:C
- Gene:
- KATNAL2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.00002/1
(GnomAD)
- HGVS:
5.
rs1489146446 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 18:47025009
(GRCh38)
18:44551380
(GRCh37)
- Canonical SPDI:
- NC_000018.10:47025008:C:T
- Gene:
- KATNAL2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000009/1
(GnomAD)
- HGVS:
6.
rs1488712021 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 18:47024568
(GRCh38)
18:44550939
(GRCh37)
- Canonical SPDI:
- NC_000018.10:47024567:A:G
- Gene:
- KATNAL2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.00051/6
(
ALFA)
G=0.01317/59
(TOMMO)
- HGVS:
7.
rs1488261820 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 18:47025647
(GRCh38)
18:44552018
(GRCh37)
- Canonical SPDI:
- NC_000018.10:47025646:A:G
- Gene:
- KATNAL2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.01171/34
(KOREAN)
- HGVS:
10.
rs1483878898 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 18:47022834
(GRCh38)
18:-1
(GRCh37)
- Canonical SPDI:
- NC_000018.10:47022833:G:A
- Gene:
- KATNAL2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.00008/1
(
ALFA)
A=0.00012/11
(GnomAD)
- HGVS:
12.
rs1482019049 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 18:47023019
(GRCh38)
18:-1
(GRCh37)
- Canonical SPDI:
- NC_000018.10:47023018:T:C
- Gene:
- KATNAL2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000015/4
(TOPMED)
- HGVS:
14.
rs1481179152 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 18:47025338
(GRCh38)
18:44551709
(GRCh37)
- Canonical SPDI:
- NC_000018.10:47025337:A:G,NC_000018.10:47025337:A:T
- Gene:
- KATNAL2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.00068/11
(
ALFA)
A=0.5/2
(SGDP_PRJ)
- HGVS:
15.
rs1479686911 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 18:47025644
(GRCh38)
18:44552015
(GRCh37)
- Canonical SPDI:
- NC_000018.10:47025643:G:C
- Gene:
- KATNAL2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.01066/31
(KOREAN)
- HGVS:
16.
rs1479143310 has merged into rs139200050 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT>-,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
[Show Flanks]
- Chromosome:
- 18:47025519
(GRCh38)
18:44551890
(GRCh37)
- Canonical SPDI:
- NC_000018.10:47025502:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGT,NC_000018.10:47025502:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT,NC_000018.10:47025502:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000018.10:47025502:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000018.10:47025502:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000018.10:47025502:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000018.10:47025502:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000018.10:47025502:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000018.10:47025502:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000018.10:47025502:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000018.10:47025502:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000018.10:47025502:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000018.10:47025502:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000018.10:47025502:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000018.10:47025502:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000018.10:47025502:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000018.10:47025502:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
- Gene:
- KATNAL2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTGTGTGTGTGTGTGTGTGT=0./0
(
ALFA)
-=0.175/7
(GENOME_DK)
- HGVS:
NC_000018.10:g.47025503GT[8], NC_000018.10:g.47025503GT[10], NC_000018.10:g.47025503GT[11], NC_000018.10:g.47025503GT[12], NC_000018.10:g.47025503GT[13], NC_000018.10:g.47025503GT[14], NC_000018.10:g.47025503GT[15], NC_000018.10:g.47025503GT[16], NC_000018.10:g.47025503GT[17], NC_000018.10:g.47025503GT[18], NC_000018.10:g.47025503GT[19], NC_000018.10:g.47025503GT[20], NC_000018.10:g.47025503GT[21], NC_000018.10:g.47025503GT[22], NC_000018.10:g.47025503GT[24], NC_000018.10:g.47025503GT[25], NC_000018.10:g.47025503GT[26], NC_000018.9:g.44551874GT[8], NC_000018.9:g.44551874GT[10], NC_000018.9:g.44551874GT[11], NC_000018.9:g.44551874GT[12], NC_000018.9:g.44551874GT[13], NC_000018.9:g.44551874GT[14], NC_000018.9:g.44551874GT[15], NC_000018.9:g.44551874GT[16], NC_000018.9:g.44551874GT[17], NC_000018.9:g.44551874GT[18], NC_000018.9:g.44551874GT[19], NC_000018.9:g.44551874GT[20], NC_000018.9:g.44551874GT[21], NC_000018.9:g.44551874GT[22], NC_000018.9:g.44551874GT[24], NC_000018.9:g.44551874GT[25], NC_000018.9:g.44551874GT[26]
17.
rs1478710694 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TCCCCCCCCCA>-
[Show Flanks]
- Chromosome:
- 18:47025097
(GRCh38)
18:44551468
(GRCh37)
- Canonical SPDI:
- NC_000018.10:47025096:TCCCCCCCCCA:
- Gene:
- KATNAL2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00008/1
(
ALFA)
-=0.02244/153
(TOMMO)
- HGVS:
18.
rs1477731729 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 18:47022773
(GRCh38)
18:-1
(GRCh37)
- Canonical SPDI:
- NC_000018.10:47022772:G:A
- Gene:
- KATNAL2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.00016/14
(GnomAD)
A=0.00078/5
(1000Genomes)
- HGVS:
19.
rs1474263991 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 18:47025114
(GRCh38)
18:44551485
(GRCh37)
- Canonical SPDI:
- NC_000018.10:47025113:C:A,NC_000018.10:47025113:C:T
- Gene:
- KATNAL2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.00011/1
(TOMMO)
- HGVS: