rs376351191
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs376351191(C;C) |
Make rs376351191(C;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 17 |
Position | 18153858 |
Gene | LOC105371567, LOC105371568, MYO15A |
is a | snp |
is | mentioned by |
dbSNP | rs376351191 |
dbSNP (classic) | rs376351191 |
ClinGen | rs376351191 |
ebi | rs376351191 |
HLI | rs376351191 |
Exac | rs376351191 |
Gnomad | rs376351191 |
Varsome | rs376351191 |
LitVar | rs376351191 |
Map | rs376351191 |
PheGenI | rs376351191 |
Biobank | rs376351191 |
1000 genomes | rs376351191 |
hgdp | rs376351191 |
ensembl | rs376351191 |
geneview | rs376351191 |
scholar | rs376351191 |
rs376351191 | |
pharmgkb | rs376351191 |
gwascentral | rs376351191 |
openSNP | rs376351191 |
23andMe | rs376351191 |
SNPshot | rs376351191 |
SNPdbe | rs376351191 |
MSV3d | rs376351191 |
GWAS Ctlg | rs376351191 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs376351191(C;C) |
Alt | rs376351191(C;C) |
Reference | Rs376351191(T;T) |
Significance | Probable-Pathogenic |
Disease | Nonsyndromic Hearing Loss not provided |
Variation | info |
Gene | MYO15A |
CLNDBN | Nonsyndromic Hearing Loss, Recessive not provided |
Reversed | 0 |
HGVS | NC_000017.10:g.18057172T>C |
CLNSRC | |
CLNACC | RCV000353974.1, RCV000418317.1, |