rs201018751
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs201018751(A;G) |
Make rs201018751(G;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 21 |
Position | 42375720 |
Gene | TMPRSS3 |
is a | snp |
is | mentioned by |
dbSNP | rs201018751 |
dbSNP (classic) | rs201018751 |
ClinGen | rs201018751 |
ebi | rs201018751 |
HLI | rs201018751 |
Exac | rs201018751 |
Gnomad | rs201018751 |
Varsome | rs201018751 |
LitVar | rs201018751 |
Map | rs201018751 |
PheGenI | rs201018751 |
Biobank | rs201018751 |
1000 genomes | rs201018751 |
hgdp | rs201018751 |
ensembl | rs201018751 |
geneview | rs201018751 |
scholar | rs201018751 |
rs201018751 | |
pharmgkb | rs201018751 |
gwascentral | rs201018751 |
openSNP | rs201018751 |
23andMe | rs201018751 |
SNPshot | rs201018751 |
SNPdbe | rs201018751 |
MSV3d | rs201018751 |
GWAS Ctlg | rs201018751 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs201018751(G;G) |
Alt | rs201018751(G;G) |
Reference | Rs201018751(A;A) |
Significance | Probable-Pathogenic |
Disease | Nonsyndromic hearing loss and deafness |
Variation | info |
Gene | TMPRSS3 |
CLNDBN | Nonsyndromic hearing loss and deafness |
Reversed | 0 |
HGVS | NC_000021.8:g.43795829A>G |
CLNSRC | |
CLNACC | RCV000039341.3, |