rs147231991
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs147231991(G;T) |
Make rs147231991(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 21 |
Position | 42388436 |
Gene | TMPRSS3 |
is a | snp |
is | mentioned by |
dbSNP | rs147231991 |
dbSNP (classic) | rs147231991 |
ClinGen | rs147231991 |
ebi | rs147231991 |
HLI | rs147231991 |
Exac | rs147231991 |
Gnomad | rs147231991 |
Varsome | rs147231991 |
LitVar | rs147231991 |
Map | rs147231991 |
PheGenI | rs147231991 |
Biobank | rs147231991 |
1000 genomes | rs147231991 |
hgdp | rs147231991 |
ensembl | rs147231991 |
geneview | rs147231991 |
scholar | rs147231991 |
rs147231991 | |
pharmgkb | rs147231991 |
gwascentral | rs147231991 |
openSNP | rs147231991 |
23andMe | rs147231991 |
SNPshot | rs147231991 |
SNPdbe | rs147231991 |
MSV3d | rs147231991 |
GWAS Ctlg | rs147231991 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs147231991(T;T) |
Alt | rs147231991(T;T) |
Reference | Rs147231991(G;G) |
Significance | Pathogenic |
Disease | Nonsyndromic hearing loss and deafness Nonsyndromic Hearing Loss not provided Deafness |
Variation | info |
Gene | TMPRSS3 |
CLNDBN | Nonsyndromic hearing loss and deafness Nonsyndromic Hearing Loss, Recessive not provided Deafness, autosomal recessive 8 |
Reversed | 0 |
HGVS | NC_000021.8:g.43808545G>T |
CLNSRC | ClinVar |
CLNACC | RCV000039356.3, RCV000322137.1, RCV000413170.1, RCV000454169.1, |