rs121965082
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs121965082(A;A) |
Make rs121965082(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 77166162 |
Gene | MYO7A |
is a | snp |
is | mentioned by |
dbSNP | rs121965082 |
dbSNP (classic) | rs121965082 |
ClinGen | rs121965082 |
ebi | rs121965082 |
HLI | rs121965082 |
Exac | rs121965082 |
Gnomad | rs121965082 |
Varsome | rs121965082 |
LitVar | rs121965082 |
Map | rs121965082 |
PheGenI | rs121965082 |
Biobank | rs121965082 |
1000 genomes | rs121965082 |
hgdp | rs121965082 |
ensembl | rs121965082 |
geneview | rs121965082 |
scholar | rs121965082 |
rs121965082 | |
pharmgkb | rs121965082 |
gwascentral | rs121965082 |
openSNP | rs121965082 |
23andMe | rs121965082 |
SNPshot | rs121965082 |
SNPdbe | rs121965082 |
MSV3d | rs121965082 |
GWAS Ctlg | rs121965082 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121965082(A;A) |
Alt | rs121965082(A;A) |
Reference | Rs121965082(G;G) |
Significance | Pathogenic |
Disease | Deafness Usher syndrome |
Variation | info |
Gene | MYO7A |
CLNDBN | Deafness, autosomal recessive 2 Usher syndrome, type 1B |
Reversed | 0 |
HGVS | NC_000011.9:g.76877208G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000012630.17, RCV000012631.25, |