rs104894924
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs104894924(C;G) |
Make rs104894924(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 83509291 |
Gene | POU3F4 |
is a | snp |
is | mentioned by |
dbSNP | rs104894924 |
dbSNP (classic) | rs104894924 |
ClinGen | rs104894924 |
ebi | rs104894924 |
HLI | rs104894924 |
Exac | rs104894924 |
Gnomad | rs104894924 |
Varsome | rs104894924 |
LitVar | rs104894924 |
Map | rs104894924 |
PheGenI | rs104894924 |
Biobank | rs104894924 |
1000 genomes | rs104894924 |
hgdp | rs104894924 |
ensembl | rs104894924 |
geneview | rs104894924 |
scholar | rs104894924 |
rs104894924 | |
pharmgkb | rs104894924 |
gwascentral | rs104894924 |
openSNP | rs104894924 |
23andMe | rs104894924 |
SNPshot | rs104894924 |
SNPdbe | rs104894924 |
MSV3d | rs104894924 |
GWAS Ctlg | rs104894924 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs104894924(G;G) rs104894924(T;T) |
Alt | rs104894924(G;G) rs104894924(T;T) |
Reference | Rs104894924(C;C) |
Significance | Pathogenic |
Disease | Deafness not specified |
Variation | info |
Gene | POU3F4 |
CLNDBN | Deafness, X-linked 2 not specified |
Reversed | 0 |
HGVS | NC_000023.10:g.82764299C>G; NC_000023.10:g.82764299C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000012450.25, RCV000151670.1, |