rs181949335
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs181949335(C;T) |
Make rs181949335(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 21 |
Position | 42382101 |
Gene | TMPRSS3 |
is a | snp |
is | mentioned by |
dbSNP | rs181949335 |
dbSNP (classic) | rs181949335 |
ClinGen | rs181949335 |
ebi | rs181949335 |
HLI | rs181949335 |
Exac | rs181949335 |
Gnomad | rs181949335 |
Varsome | rs181949335 |
LitVar | rs181949335 |
Map | rs181949335 |
PheGenI | rs181949335 |
Biobank | rs181949335 |
1000 genomes | rs181949335 |
hgdp | rs181949335 |
ensembl | rs181949335 |
geneview | rs181949335 |
scholar | rs181949335 |
rs181949335 | |
pharmgkb | rs181949335 |
gwascentral | rs181949335 |
openSNP | rs181949335 |
23andMe | rs181949335 |
SNPshot | rs181949335 |
SNPdbe | rs181949335 |
MSV3d | rs181949335 |
GWAS Ctlg | rs181949335 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs181949335(T;T) |
Alt | rs181949335(T;T) |
Reference | Rs181949335(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.43802210C>T |
CLNSRC | ClinVar |
CLNACC | RCV000039368.2, |