rs111033187
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs111033187(-;C) |
Make rs111033187(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 77156018 |
Gene | MYO7A |
is a | snp |
is | mentioned by |
dbSNP | rs111033187 |
dbSNP (classic) | rs111033187 |
ClinGen | rs111033187 |
ebi | rs111033187 |
HLI | rs111033187 |
Exac | rs111033187 |
Gnomad | rs111033187 |
Varsome | rs111033187 |
LitVar | rs111033187 |
Map | rs111033187 |
PheGenI | rs111033187 |
Biobank | rs111033187 |
1000 genomes | rs111033187 |
hgdp | rs111033187 |
ensembl | rs111033187 |
geneview | rs111033187 |
scholar | rs111033187 |
rs111033187 | |
pharmgkb | rs111033187 |
gwascentral | rs111033187 |
openSNP | rs111033187 |
23andMe | rs111033187 |
SNPshot | rs111033187 |
SNPdbe | rs111033187 |
MSV3d | rs111033187 |
GWAS Ctlg | rs111033187 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs111033187(C;C) |
Alt | rs111033187(C;C) |
Reference | Rs111033187(-;-) |
Significance | Probable-Pathogenic |
Disease | Usher syndrome Deafness |
Variation | info |
Gene | MYO7A |
CLNDBN | Usher syndrome, type 1 Deafness, autosomal recessive 2 |
Reversed | 0 |
HGVS | NC_000011.9:g.76867064dupC |
CLNSRC | ClinVar |
CLNACC | RCV000036133.2, RCV000409086.1, |