rs61753849
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs61753849(G;G) |
Make rs61753849(G;T) |
Make rs61753849(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 57041441 |
Gene | MYO1A |
is a | snp |
is | mentioned by |
dbSNP | rs61753849 |
dbSNP (classic) | rs61753849 |
ClinGen | rs61753849 |
ebi | rs61753849 |
HLI | rs61753849 |
Exac | rs61753849 |
Gnomad | rs61753849 |
Varsome | rs61753849 |
LitVar | rs61753849 |
Map | rs61753849 |
PheGenI | rs61753849 |
Biobank | rs61753849 |
1000 genomes | rs61753849 |
hgdp | rs61753849 |
ensembl | rs61753849 |
geneview | rs61753849 |
scholar | rs61753849 |
rs61753849 | |
pharmgkb | rs61753849 |
gwascentral | rs61753849 |
openSNP | rs61753849 |
23andMe | rs61753849 |
SNPshot | rs61753849 |
SNPdbe | rs61753849 |
MSV3d | rs61753849 |
GWAS Ctlg | rs61753849 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs61753849(A;A) |
Alt | rs61753849(A;A) |
Reference | Rs61753849(C;C) |
Significance | Pathogenic |
Disease | Deafness |
Variation | info |
Gene | MYO1A |
CLNDBN | Deafness, autosomal dominant 48 |
Reversed | 0 |
HGVS | NC_000012.11:g.57435225C>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000008626.4, |