rs1057519603
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs1057519603(C;C) |
Make rs1057519603(C;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 17 |
Position | 18126856 |
Gene | MYO15A |
is a | snp |
is | mentioned by |
dbSNP | rs1057519603 |
dbSNP (classic) | rs1057519603 |
ClinGen | rs1057519603 |
ebi | rs1057519603 |
HLI | rs1057519603 |
Exac | rs1057519603 |
Gnomad | rs1057519603 |
Varsome | rs1057519603 |
LitVar | rs1057519603 |
Map | rs1057519603 |
PheGenI | rs1057519603 |
Biobank | rs1057519603 |
1000 genomes | rs1057519603 |
hgdp | rs1057519603 |
ensembl | rs1057519603 |
geneview | rs1057519603 |
scholar | rs1057519603 |
rs1057519603 | |
pharmgkb | rs1057519603 |
gwascentral | rs1057519603 |
openSNP | rs1057519603 |
23andMe | rs1057519603 |
SNPshot | rs1057519603 |
SNPdbe | rs1057519603 |
MSV3d | rs1057519603 |
GWAS Ctlg | rs1057519603 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057519603(C;C) |
Alt | rs1057519603(C;C) |
Reference | Rs1057519603(T;T) |
Significance | Probable-Pathogenic |
Disease | Deafness |
Variation | info |
Gene | MYO15A |
CLNDBN | Deafness, autosomal recessive 3 |
Reversed | 0 |
HGVS | NC_000017.10:g.18030170T>C |
CLNSRC | |
CLNACC | RCV000417169.1, |