rs376104748
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs376104748(C;C) |
Make rs376104748(C;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 15 |
Position | 43604408 |
Gene | STRC |
is a | snp |
is | mentioned by |
dbSNP | rs376104748 |
dbSNP (classic) | rs376104748 |
ClinGen | rs376104748 |
ebi | rs376104748 |
HLI | rs376104748 |
Exac | rs376104748 |
Gnomad | rs376104748 |
Varsome | rs376104748 |
LitVar | rs376104748 |
Map | rs376104748 |
PheGenI | rs376104748 |
Biobank | rs376104748 |
1000 genomes | rs376104748 |
hgdp | rs376104748 |
ensembl | rs376104748 |
geneview | rs376104748 |
scholar | rs376104748 |
rs376104748 | |
pharmgkb | rs376104748 |
gwascentral | rs376104748 |
openSNP | rs376104748 |
23andMe | rs376104748 |
SNPshot | rs376104748 |
SNPdbe | rs376104748 |
MSV3d | rs376104748 |
GWAS Ctlg | rs376104748 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs376104748(A;A) rs376104748(C;C) |
Alt | rs376104748(A;A) rs376104748(C;C) |
Reference | Rs376104748(G;G) |
Significance | Pathogenic |
Disease | Nonsyndromic hearing loss and deafness Deafness not provided |
Variation | info |
Gene | STRC |
CLNDBN | Nonsyndromic hearing loss and deafness Deafness, autosomal dominant 16 not provided |
Reversed | 0 |
HGVS | NC_000015.9:g.43896606G>C |
CLNSRC | |
CLNACC | RCV000151950.1, RCV000225023.1, RCV000225080.1, RCV000494575.1, |