rs111033198
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs111033198(C;T) |
Make rs111033198(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 77211170 |
Gene | MYO7A |
is a | snp |
is | mentioned by |
dbSNP | rs111033198 |
dbSNP (classic) | rs111033198 |
ClinGen | rs111033198 |
ebi | rs111033198 |
HLI | rs111033198 |
Exac | rs111033198 |
Gnomad | rs111033198 |
Varsome | rs111033198 |
LitVar | rs111033198 |
Map | rs111033198 |
PheGenI | rs111033198 |
Biobank | rs111033198 |
1000 genomes | rs111033198 |
hgdp | rs111033198 |
ensembl | rs111033198 |
geneview | rs111033198 |
scholar | rs111033198 |
rs111033198 | |
pharmgkb | rs111033198 |
gwascentral | rs111033198 |
openSNP | rs111033198 |
23andMe | rs111033198 |
SNPshot | rs111033198 |
SNPdbe | rs111033198 |
MSV3d | rs111033198 |
GWAS Ctlg | rs111033198 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs111033198(T;T) |
Alt | rs111033198(T;T) |
Reference | Rs111033198(C;C) |
Significance | Pathogenic |
Disease | Usher syndrome |
Variation | info |
Gene | MYO7A |
CLNDBN | Usher syndrome, type 1 |
Reversed | 0 |
HGVS | NC_000011.9:g.76922215C>T |
CLNSRC | ClinVar |
CLNACC | RCV000036223.3, |