rs137853000
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs137853000(G;T) |
Make rs137853000(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 21 |
Position | 42383168 |
Gene | TMPRSS3 |
is a | snp |
is | mentioned by |
dbSNP | rs137853000 |
dbSNP (classic) | rs137853000 |
ClinGen | rs137853000 |
ebi | rs137853000 |
HLI | rs137853000 |
Exac | rs137853000 |
Gnomad | rs137853000 |
Varsome | rs137853000 |
LitVar | rs137853000 |
Map | rs137853000 |
PheGenI | rs137853000 |
Biobank | rs137853000 |
1000 genomes | rs137853000 |
hgdp | rs137853000 |
ensembl | rs137853000 |
geneview | rs137853000 |
scholar | rs137853000 |
rs137853000 | |
pharmgkb | rs137853000 |
gwascentral | rs137853000 |
openSNP | rs137853000 |
23andMe | rs137853000 |
SNPshot | rs137853000 |
SNPdbe | rs137853000 |
MSV3d | rs137853000 |
GWAS Ctlg | rs137853000 |
GMAF | 0.0004591 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs137853000(A;A) rs137853000(T;T) |
Alt | rs137853000(A;A) rs137853000(T;T) |
Reference | Rs137853000(G;G) |
Significance | Pathogenic |
Disease | Deafness Nonsyndromic hearing loss and deafness |
Variation | info |
Gene | TMPRSS3 |
CLNDBN | Deafness, autosomal recessive 8 Nonsyndromic hearing loss and deafness |
Reversed | 1 |
HGVS | NC_000021.8:g.43803277C>A; NC_000021.8:g.43803277C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000005234.3, RCV000039364.2, |