rs397516335
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs397516335(C;C) |
Make rs397516335(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 83509019 |
Gene | POU3F4 |
is a | snp |
is | mentioned by |
dbSNP | rs397516335 |
dbSNP (classic) | rs397516335 |
ClinGen | rs397516335 |
ebi | rs397516335 |
HLI | rs397516335 |
Exac | rs397516335 |
Gnomad | rs397516335 |
Varsome | rs397516335 |
LitVar | rs397516335 |
Map | rs397516335 |
PheGenI | rs397516335 |
Biobank | rs397516335 |
1000 genomes | rs397516335 |
hgdp | rs397516335 |
ensembl | rs397516335 |
geneview | rs397516335 |
scholar | rs397516335 |
rs397516335 | |
pharmgkb | rs397516335 |
gwascentral | rs397516335 |
openSNP | rs397516335 |
23andMe | rs397516335 |
SNPshot | rs397516335 |
SNPdbe | rs397516335 |
MSV3d | rs397516335 |
GWAS Ctlg | rs397516335 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397516335(C;C) |
Alt | rs397516335(C;C) |
Reference | Rs397516335(T;T) |
Significance | Probable-Pathogenic |
Disease | Nonsyndromic hearing loss and deafness |
Variation | info |
Gene | POU3F4 |
CLNDBN | Nonsyndromic hearing loss and deafness |
Reversed | 0 |
HGVS | NC_000023.10:g.82764027T>C |
CLNSRC | ClinVar |
CLNACC | RCV000036258.2, |