rs201632198
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs201632198(A;A) |
Make rs201632198(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 21 |
Position | 42388524 |
Gene | TMPRSS3 |
is a | snp |
is | mentioned by |
dbSNP | rs201632198 |
dbSNP (classic) | rs201632198 |
ClinGen | rs201632198 |
ebi | rs201632198 |
HLI | rs201632198 |
Exac | rs201632198 |
Gnomad | rs201632198 |
Varsome | rs201632198 |
LitVar | rs201632198 |
Map | rs201632198 |
PheGenI | rs201632198 |
Biobank | rs201632198 |
1000 genomes | rs201632198 |
hgdp | rs201632198 |
ensembl | rs201632198 |
geneview | rs201632198 |
scholar | rs201632198 |
rs201632198 | |
pharmgkb | rs201632198 |
gwascentral | rs201632198 |
openSNP | rs201632198 |
23andMe | rs201632198 |
SNPshot | rs201632198 |
SNPdbe | rs201632198 |
MSV3d | rs201632198 |
GWAS Ctlg | rs201632198 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs201632198(A;A) |
Alt | rs201632198(A;A) |
Reference | Rs201632198(G;G) |
Significance | Pathogenic |
Disease | Deafness Nonsyndromic hearing loss and deafness Nonsyndromic Hearing Loss not provided |
Variation | info |
Gene | TMPRSS3 |
CLNDBN | Deafness, autosomal recessive 8 Nonsyndromic hearing loss and deafness Nonsyndromic Hearing Loss, Recessive not provided |
Reversed | 0 |
HGVS | NC_000021.8:g.43808633G>A |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000039351.4, RCV000211860.1, RCV000262015.1, RCV000332878.1, |