rs33962952
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs33962952(C;T) |
Make rs33962952(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 57037618 |
Gene | MYO1A |
is a | snp |
is | mentioned by |
dbSNP | rs33962952 |
dbSNP (classic) | rs33962952 |
ClinGen | rs33962952 |
ebi | rs33962952 |
HLI | rs33962952 |
Exac | rs33962952 |
Gnomad | rs33962952 |
Varsome | rs33962952 |
LitVar | rs33962952 |
Map | rs33962952 |
PheGenI | rs33962952 |
Biobank | rs33962952 |
1000 genomes | rs33962952 |
hgdp | rs33962952 |
ensembl | rs33962952 |
geneview | rs33962952 |
scholar | rs33962952 |
rs33962952 | |
pharmgkb | rs33962952 |
gwascentral | rs33962952 |
openSNP | rs33962952 |
23andMe | rs33962952 |
SNPshot | rs33962952 |
SNPdbe | rs33962952 |
MSV3d | rs33962952 |
GWAS Ctlg | rs33962952 |
GMAF | 0.01469 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs33962952(T;T) |
Alt | rs33962952(T;T) |
Reference | Rs33962952(C;C) |
Significance | Probable-non-pathogenic |
Disease | Deafness not specified Nonsyndromic Hearing Loss |
Variation | info |
Gene | MYO1A |
CLNDBN | Deafness, autosomal dominant 48 not specified Nonsyndromic Hearing Loss, Dominant |
Reversed | 0 |
HGVS | NC_000012.11:g.57431402C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000008627.4, RCV000038471.3, RCV000369472.1, |