rs137852839
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs137852839(C;T) |
Make rs137852839(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 9 |
Position | 114403982 |
Gene | WHRN |
is a | snp |
is | mentioned by |
dbSNP | rs137852839 |
dbSNP (classic) | rs137852839 |
ClinGen | rs137852839 |
ebi | rs137852839 |
HLI | rs137852839 |
Exac | rs137852839 |
Gnomad | rs137852839 |
Varsome | rs137852839 |
LitVar | rs137852839 |
Map | rs137852839 |
PheGenI | rs137852839 |
Biobank | rs137852839 |
1000 genomes | rs137852839 |
hgdp | rs137852839 |
ensembl | rs137852839 |
geneview | rs137852839 |
scholar | rs137852839 |
rs137852839 | |
pharmgkb | rs137852839 |
gwascentral | rs137852839 |
openSNP | rs137852839 |
23andMe | rs137852839 |
SNPshot | rs137852839 |
SNPdbe | rs137852839 |
MSV3d | rs137852839 |
GWAS Ctlg | rs137852839 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs137852839(T;T) |
Alt | rs137852839(T;T) |
Reference | Rs137852839(C;C) |
Significance | Pathogenic |
Disease | Deafness |
Variation | info |
Gene | WHRN DFNB31 |
CLNDBN | Deafness, autosomal recessive 31 |
Reversed | 1 |
HGVS | NC_000009.11:g.117166262G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000002808.4, |