rs571594379
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs571594379(G;T) |
Make rs571594379(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 17 |
Position | 18119425 |
Gene | LOC105371566, MYO15A |
is a | snp |
is | mentioned by |
dbSNP | rs571594379 |
dbSNP (classic) | rs571594379 |
ClinGen | rs571594379 |
ebi | rs571594379 |
HLI | rs571594379 |
Exac | rs571594379 |
Gnomad | rs571594379 |
Varsome | rs571594379 |
LitVar | rs571594379 |
Map | rs571594379 |
PheGenI | rs571594379 |
Biobank | rs571594379 |
1000 genomes | rs571594379 |
hgdp | rs571594379 |
ensembl | rs571594379 |
geneview | rs571594379 |
scholar | rs571594379 |
rs571594379 | |
pharmgkb | rs571594379 |
gwascentral | rs571594379 |
openSNP | rs571594379 |
23andMe | rs571594379 |
SNPshot | rs571594379 |
SNPdbe | rs571594379 |
MSV3d | rs571594379 |
GWAS Ctlg | rs571594379 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs571594379(T;T) |
Alt | rs571594379(T;T) |
Reference | Rs571594379(G;G) |
Significance | Pathogenic |
Disease | Deafness |
Variation | info |
Gene | MYO15A |
CLNDBN | Deafness, autosomal recessive 3 |
Reversed | 0 |
HGVS | NC_000017.10:g.18022739G>T |
CLNSRC | |
CLNACC | RCV000477946.1, |