rs267606974
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs267606974(-;-) |
Make rs267606974(-;A) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 83509219 |
Gene | POU3F4 |
is a | snp |
is | mentioned by |
dbSNP | rs267606974 |
dbSNP (classic) | rs267606974 |
ClinGen | rs267606974 |
ebi | rs267606974 |
HLI | rs267606974 |
Exac | rs267606974 |
Gnomad | rs267606974 |
Varsome | rs267606974 |
LitVar | rs267606974 |
Map | rs267606974 |
PheGenI | rs267606974 |
Biobank | rs267606974 |
1000 genomes | rs267606974 |
hgdp | rs267606974 |
ensembl | rs267606974 |
geneview | rs267606974 |
scholar | rs267606974 |
rs267606974 | |
pharmgkb | rs267606974 |
gwascentral | rs267606974 |
openSNP | rs267606974 |
23andMe | rs267606974 |
SNPshot | rs267606974 |
SNPdbe | rs267606974 |
MSV3d | rs267606974 |
GWAS Ctlg | rs267606974 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs267606974(-;-) |
Alt | rs267606974(-;-) |
Reference | Rs267606974(A;A) |
Significance | Pathogenic |
Disease | Deafness |
Variation | info |
Gene | POU3F4 |
CLNDBN | Deafness, X-linked 2 |
Reversed | 0 |
HGVS | NC_000023.10:g.82764227delA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000144387.3, |