rs374793617
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs374793617(C;T) |
Make rs374793617(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 21 |
Position | 42388532 |
Gene | TMPRSS3 |
is a | snp |
is | mentioned by |
dbSNP | rs374793617 |
dbSNP (classic) | rs374793617 |
ClinGen | rs374793617 |
ebi | rs374793617 |
HLI | rs374793617 |
Exac | rs374793617 |
Gnomad | rs374793617 |
Varsome | rs374793617 |
LitVar | rs374793617 |
Map | rs374793617 |
PheGenI | rs374793617 |
Biobank | rs374793617 |
1000 genomes | rs374793617 |
hgdp | rs374793617 |
ensembl | rs374793617 |
geneview | rs374793617 |
scholar | rs374793617 |
rs374793617 | |
pharmgkb | rs374793617 |
gwascentral | rs374793617 |
openSNP | rs374793617 |
23andMe | rs374793617 |
SNPshot | rs374793617 |
SNPdbe | rs374793617 |
MSV3d | rs374793617 |
GWAS Ctlg | rs374793617 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs374793617(T;T) |
Alt | rs374793617(T;T) |
Reference | Rs374793617(C;C) |
Significance | Pathogenic |
Disease | Nonsyndromic hearing loss and deafness |
Variation | info |
Gene | TMPRSS3 |
CLNDBN | Nonsyndromic hearing loss and deafness |
Reversed | 0 |
HGVS | NC_000021.8:g.43808641C>T |
CLNSRC | ClinVar |
CLNACC | RCV000039350.2, |