rs782607566
From SNPedia
Orientation | plus |
Stabilized | plus |
Make rs782607566(A;A) |
Make rs782607566(A;C) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 11 |
Position | 77162917 |
Gene | MYO7A |
is a | snp |
is | mentioned by |
dbSNP | rs782607566 |
dbSNP (classic) | rs782607566 |
ClinGen | rs782607566 |
ebi | rs782607566 |
HLI | rs782607566 |
Exac | rs782607566 |
Gnomad | rs782607566 |
Varsome | rs782607566 |
LitVar | rs782607566 |
Map | rs782607566 |
PheGenI | rs782607566 |
Biobank | rs782607566 |
1000 genomes | rs782607566 |
hgdp | rs782607566 |
ensembl | rs782607566 |
geneview | rs782607566 |
scholar | rs782607566 |
rs782607566 | |
pharmgkb | rs782607566 |
gwascentral | rs782607566 |
openSNP | rs782607566 |
23andMe | rs782607566 |
SNPshot | rs782607566 |
SNPdbe | rs782607566 |
MSV3d | rs782607566 |
GWAS Ctlg | rs782607566 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs782607566(A;A) |
Alt | rs782607566(A;A) |
Reference | Rs782607566(C;C) |
Significance | Probable-Pathogenic |
Disease | Usher syndrome Retinitis pigmentosa-deafness syndrome Nonsyndromic Hearing Loss Nonsyndromic Hearing Loss |
Variation | info |
Gene | MYO7A |
CLNDBN | Usher syndrome, type 1 Retinitis pigmentosa-deafness syndrome Nonsyndromic Hearing Loss, Recessive Nonsyndromic Hearing Loss, Dominant |
Reversed | 0 |
HGVS | NC_000011.9:g.76873963C>A |
CLNSRC | |
CLNACC | RCV000222836.1, RCV000308007.1, RCV000344299.1, RCV000394833.1, |