rs794729637
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs794729637(-;G) |
Make rs794729637(G;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 17 |
Position | 18122111 |
Gene | MYO15A |
is a | snp |
is | mentioned by |
dbSNP | rs794729637 |
dbSNP (classic) | rs794729637 |
ClinGen | rs794729637 |
ebi | rs794729637 |
HLI | rs794729637 |
Exac | rs794729637 |
Gnomad | rs794729637 |
Varsome | rs794729637 |
LitVar | rs794729637 |
Map | rs794729637 |
PheGenI | rs794729637 |
Biobank | rs794729637 |
1000 genomes | rs794729637 |
hgdp | rs794729637 |
ensembl | rs794729637 |
geneview | rs794729637 |
scholar | rs794729637 |
rs794729637 | |
pharmgkb | rs794729637 |
gwascentral | rs794729637 |
openSNP | rs794729637 |
23andMe | rs794729637 |
SNPshot | rs794729637 |
SNPdbe | rs794729637 |
MSV3d | rs794729637 |
GWAS Ctlg | rs794729637 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs794729637(G;G) |
Alt | rs794729637(G;G) |
Reference | Rs794729637(-;-) |
Significance | Pathogenic |
Disease | Deafness |
Variation | info |
Gene | MYO15A |
CLNDBN | Deafness, autosomal recessive 3 |
Reversed | 0 |
HGVS | NC_000017.10:g.18025425dupG |
CLNSRC | |
CLNACC | RCV000185530.2, |