Links from Gene
Items: 1 to 20 of 33
1.
rs1478984748 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,T
[Show Flanks]
- Chromosome:
- X:155458981
(GRCh38)
X:154688642
(GRCh37)
- Canonical SPDI:
- NC_000023.11:155458980:A:C,NC_000023.11:155458980:A:T
- Gene:
- H2AB3 (Varview), F8A3 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.00078/8
(
ALFA)
C=0.04525/20
(KOREAN)
- HGVS:
4.
rs1436478481 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G
[Show Flanks]
- Chromosome:
- X:155459001
(GRCh38)
X:154688662
(GRCh37)
- Canonical SPDI:
- NC_000023.11:155459000:C:A,NC_000023.11:155459000:C:G
- Gene:
- H2AB3 (Varview), F8A3 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
C=0./0
(SGDP_PRJ)
- HGVS:
5.
rs1419838928 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- X:155459012
(GRCh38)
X:154688673
(GRCh37)
- Canonical SPDI:
- NC_000023.11:155459011:C:G
- Gene:
- H2AB3 (Varview), F8A3 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.00015/2
(
ALFA)
G=0.00042/2
(1000Genomes)
- HGVS:
6.
rs1418680978 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- X:155458960
(GRCh38)
X:154688621
(GRCh37)
- Canonical SPDI:
- NC_000023.11:155458959:A:C
- Gene:
- H2AB3 (Varview), F8A3 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.07452/884
(
ALFA)
C=0.02062/8
(KOREAN)
- HGVS:
7.
rs1408060347 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- X:155458949
(GRCh38)
X:154688610
(GRCh37)
- Canonical SPDI:
- NC_000023.11:155458948:G:C
- Gene:
- H2AB3 (Varview), F8A3 (Varview)
- Functional Consequence:
- 500B_downstream_variant,2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.01568/186
(
ALFA)
G=0./0
(SGDP_PRJ)
C=0.00231/2
(TOMMO)
- HGVS:
13.
rs1350704389 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- X:155459003
(GRCh38)
X:154688664
(GRCh37)
- Canonical SPDI:
- NC_000023.11:155459002:C:G
- Gene:
- H2AB3 (Varview), F8A3 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.00438/52
(
ALFA)
C=0./0
(SGDP_PRJ)
G=0.00046/1
(TOMMO)
- HGVS:
14.
rs1334590295 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G
[Show Flanks]
- Chromosome:
- X:155459008
(GRCh38)
X:154688669
(GRCh37)
- Canonical SPDI:
- NC_000023.11:155459007:C:A,NC_000023.11:155459007:C:G
- Gene:
- H2AB3 (Varview), F8A3 (Varview)
- Functional Consequence:
- 500B_downstream_variant,2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.00083/4
(1000Genomes)
- HGVS:
15.
rs1333114142 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- X:155458865
(GRCh38)
X:154688526
(GRCh37)
- Canonical SPDI:
- NC_000023.11:155458864:C:T
- Gene:
- F8A3 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.00017/2
(
ALFA)
T=0.00538/1
(GnomAD)
- HGVS:
18.
rs1301257899 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G,T
[Show Flanks]
- Chromosome:
- X:155459004
(GRCh38)
X:154688665
(GRCh37)
- Canonical SPDI:
- NC_000023.11:155459003:C:A,NC_000023.11:155459003:C:G,NC_000023.11:155459003:C:T
- Gene:
- H2AB3 (Varview), F8A3 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
- HGVS:
NC_000023.11:g.155459004C>A, NC_000023.11:g.155459004C>G, NC_000023.11:g.155459004C>T, NW_003871103.3:g.2892983C>A, NW_003871103.3:g.2892983C>G, NW_003871103.3:g.2892983C>T, NG_042814.1:g.4457C>A, NG_042814.1:g.4457C>G, NG_042814.1:g.4457C>T, NC_000023.10:g.154688665C>A, NC_000023.10:g.154688665C>G, NC_000023.10:g.154688665C>T
19.
rs1281543188 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G,T
[Show Flanks]
- Chromosome:
- X:155459006
(GRCh38)
X:154688667
(GRCh37)
- Canonical SPDI:
- NC_000023.11:155459005:C:A,NC_000023.11:155459005:C:G,NC_000023.11:155459005:C:T
- Gene:
- H2AB3 (Varview), F8A3 (Varview)
- Functional Consequence:
- downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
- HGVS:
NC_000023.11:g.155459006C>A, NC_000023.11:g.155459006C>G, NC_000023.11:g.155459006C>T, NW_003871103.3:g.2892985C>A, NW_003871103.3:g.2892985C>G, NW_003871103.3:g.2892985C>T, NG_042814.1:g.4459C>A, NG_042814.1:g.4459C>G, NG_042814.1:g.4459C>T, NC_000023.10:g.154688667C>A, NC_000023.10:g.154688667C>G, NC_000023.10:g.154688667C>T
20.
rs1272785202 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G
[Show Flanks]
- Chromosome:
- X:155459002
(GRCh38)
X:154688663
(GRCh37)
- Canonical SPDI:
- NC_000023.11:155459001:C:A,NC_000023.11:155459001:C:G
- Gene:
- H2AB3 (Varview), F8A3 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
A=0.00104/5
(1000Genomes)
- HGVS: