rs41298135
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs41298135(A;A) |
Make rs41298135(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 77158332 |
Gene | MYO7A |
is a | snp |
is | mentioned by |
dbSNP | rs41298135 |
dbSNP (classic) | rs41298135 |
ClinGen | rs41298135 |
ebi | rs41298135 |
HLI | rs41298135 |
Exac | rs41298135 |
Gnomad | rs41298135 |
Varsome | rs41298135 |
LitVar | rs41298135 |
Map | rs41298135 |
PheGenI | rs41298135 |
Biobank | rs41298135 |
1000 genomes | rs41298135 |
hgdp | rs41298135 |
ensembl | rs41298135 |
geneview | rs41298135 |
scholar | rs41298135 |
rs41298135 | |
pharmgkb | rs41298135 |
gwascentral | rs41298135 |
openSNP | rs41298135 |
23andMe | rs41298135 |
SNPshot | rs41298135 |
SNPdbe | rs41298135 |
MSV3d | rs41298135 |
GWAS Ctlg | rs41298135 |
GMAF | 0.001377 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs41298135(A;A) rs41298135(T;T) |
Alt | rs41298135(A;A) rs41298135(T;T) |
Reference | Rs41298135(G;G) |
Significance | Other |
Disease | Usher syndrome not specified Nonsyndromic Hearing Loss Nonsyndromic Hearing Loss Retinitis pigmentosa-deafness syndrome |
Variation | info |
Gene | MYO7A |
CLNDBN | Usher syndrome, type 1B not specified Nonsyndromic Hearing Loss, Dominant Nonsyndromic Hearing Loss, Recessive Retinitis pigmentosa-deafness syndrome |
Reversed | 0 |
HGVS | NC_000011.9:g.76869378G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000012626.19, RCV000036251.3, RCV000282374.1, RCV000337254.1, RCV000386045.1, |