rs121909305
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121909305(C;T) |
Make rs121909305(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 12 |
Position | 57047675 |
Gene | MYO1A |
is a | snp |
is | mentioned by |
dbSNP | rs121909305 |
dbSNP (classic) | rs121909305 |
ClinGen | rs121909305 |
ebi | rs121909305 |
HLI | rs121909305 |
Exac | rs121909305 |
Gnomad | rs121909305 |
Varsome | rs121909305 |
LitVar | rs121909305 |
Map | rs121909305 |
PheGenI | rs121909305 |
Biobank | rs121909305 |
1000 genomes | rs121909305 |
hgdp | rs121909305 |
ensembl | rs121909305 |
geneview | rs121909305 |
scholar | rs121909305 |
rs121909305 | |
pharmgkb | rs121909305 |
gwascentral | rs121909305 |
openSNP | rs121909305 |
23andMe | rs121909305 |
SNPshot | rs121909305 |
SNPdbe | rs121909305 |
MSV3d | rs121909305 |
GWAS Ctlg | rs121909305 |
GMAF | 0.0004591 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121909305(G;G) rs121909305(T;T) |
Alt | rs121909305(G;G) rs121909305(T;T) |
Reference | Rs121909305(C;C) |
Significance | Other |
Disease | Deafness not specified Nonsyndromic Hearing Loss |
Variation | info |
Gene | MYO1A |
CLNDBN | Deafness, autosomal dominant 48 not specified Nonsyndromic Hearing Loss, Dominant |
Reversed | 1 |
HGVS | NC_000012.11:g.57441459G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000008623.4, RCV000151452.2, RCV000263583.1, |