rs780027419
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs780027419(C;G) |
Make rs780027419(G;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | X |
Position | 83509201 |
Gene | POU3F4 |
is a | snp |
is | mentioned by |
dbSNP | rs780027419 |
dbSNP (classic) | rs780027419 |
ClinGen | rs780027419 |
ebi | rs780027419 |
HLI | rs780027419 |
Exac | rs780027419 |
Gnomad | rs780027419 |
Varsome | rs780027419 |
LitVar | rs780027419 |
Map | rs780027419 |
PheGenI | rs780027419 |
Biobank | rs780027419 |
1000 genomes | rs780027419 |
hgdp | rs780027419 |
ensembl | rs780027419 |
geneview | rs780027419 |
scholar | rs780027419 |
rs780027419 | |
pharmgkb | rs780027419 |
gwascentral | rs780027419 |
openSNP | rs780027419 |
23andMe | rs780027419 |
SNPshot | rs780027419 |
SNPdbe | rs780027419 |
MSV3d | rs780027419 |
GWAS Ctlg | rs780027419 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs780027419(G;G) rs780027419(T;T) |
Alt | rs780027419(G;G) rs780027419(T;T) |
Reference | Rs780027419(C;C) |
Significance | Pathogenic |
Disease | Deafness |
Variation | info |
Gene | POU3F4 |
CLNDBN | Deafness, X-linked 2 |
Reversed | 0 |
HGVS | NC_000023.10:g.82764209C>G |
CLNSRC | |
CLNACC | RCV000474747.1, |