rs727503493
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs727503493(-;-) |
Make rs727503493(-;C) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 21 |
Position | 42389043 |
Gene | TMPRSS3 |
is a | snp |
is | mentioned by |
dbSNP | rs727503493 |
dbSNP (classic) | rs727503493 |
ClinGen | rs727503493 |
ebi | rs727503493 |
HLI | rs727503493 |
Exac | rs727503493 |
Gnomad | rs727503493 |
Varsome | rs727503493 |
LitVar | rs727503493 |
Map | rs727503493 |
PheGenI | rs727503493 |
Biobank | rs727503493 |
1000 genomes | rs727503493 |
hgdp | rs727503493 |
ensembl | rs727503493 |
geneview | rs727503493 |
scholar | rs727503493 |
rs727503493 | |
pharmgkb | rs727503493 |
gwascentral | rs727503493 |
openSNP | rs727503493 |
23andMe | rs727503493 |
SNPshot | rs727503493 |
SNPdbe | rs727503493 |
MSV3d | rs727503493 |
GWAS Ctlg | rs727503493 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs727503493(-;-) |
Alt | rs727503493(-;-) |
Reference | Rs727503493(C;C) |
Significance | Pathogenic |
Disease | Nonsyndromic hearing loss and deafness Nonsyndromic Hearing Loss not provided |
Variation | info |
Gene | TMPRSS3 |
CLNDBN | Nonsyndromic hearing loss and deafness Nonsyndromic Hearing Loss, Recessive not provided |
Reversed | 1 |
HGVS | NC_000021.8:g.43809152delG |
CLNSRC | |
CLNACC | RCV000152065.2, RCV000371920.1, RCV000412773.1, |