rs372526764
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs372526764(C;T) |
Make rs372526764(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 21 |
Position | 42383088 |
Gene | TMPRSS3 |
is a | snp |
is | mentioned by |
dbSNP | rs372526764 |
dbSNP (classic) | rs372526764 |
ClinGen | rs372526764 |
ebi | rs372526764 |
HLI | rs372526764 |
Exac | rs372526764 |
Gnomad | rs372526764 |
Varsome | rs372526764 |
LitVar | rs372526764 |
Map | rs372526764 |
PheGenI | rs372526764 |
Biobank | rs372526764 |
1000 genomes | rs372526764 |
hgdp | rs372526764 |
ensembl | rs372526764 |
geneview | rs372526764 |
scholar | rs372526764 |
rs372526764 | |
pharmgkb | rs372526764 |
gwascentral | rs372526764 |
openSNP | rs372526764 |
23andMe | rs372526764 |
SNPshot | rs372526764 |
SNPdbe | rs372526764 |
MSV3d | rs372526764 |
GWAS Ctlg | rs372526764 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs372526764(T;T) |
Alt | rs372526764(T;T) |
Reference | Rs372526764(C;C) |
Significance | Probable-Pathogenic |
Disease | Nonsyndromic hearing loss and deafness Deafness |
Variation | info |
Gene | TMPRSS3 |
CLNDBN | Nonsyndromic hearing loss and deafness Deafness, autosomal recessive 8 |
Reversed | 0 |
HGVS | NC_000021.8:g.43803197C>T |
CLNSRC | |
CLNACC | RCV000155297.1, RCV000487440.1, |