rs191710555
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs191710555(C;T) |
Make rs191710555(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 17 |
Position | 18120023 |
Gene | LOC105371566, MYO15A |
is a | snp |
is | mentioned by |
dbSNP | rs191710555 |
dbSNP (classic) | rs191710555 |
ClinGen | rs191710555 |
ebi | rs191710555 |
HLI | rs191710555 |
Exac | rs191710555 |
Gnomad | rs191710555 |
Varsome | rs191710555 |
LitVar | rs191710555 |
Map | rs191710555 |
PheGenI | rs191710555 |
Biobank | rs191710555 |
1000 genomes | rs191710555 |
hgdp | rs191710555 |
ensembl | rs191710555 |
geneview | rs191710555 |
scholar | rs191710555 |
rs191710555 | |
pharmgkb | rs191710555 |
gwascentral | rs191710555 |
openSNP | rs191710555 |
23andMe | rs191710555 |
SNPshot | rs191710555 |
SNPdbe | rs191710555 |
MSV3d | rs191710555 |
GWAS Ctlg | rs191710555 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs191710555(T;T) |
Alt | rs191710555(T;T) |
Reference | Rs191710555(C;C) |
Significance | Pathogenic |
Disease | Deafness |
Variation | info |
Gene | MYO15A |
CLNDBN | Deafness, autosomal recessive 3 |
Reversed | 0 |
HGVS | NC_000017.10:g.18023337C>T |
CLNSRC | |
CLNACC | RCV000454352.1, |