rs193919333
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs193919333(G;G) |
Make rs193919333(G;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 10 |
Position | 26168729 |
Gene | MYO3A |
is a | snp |
is | mentioned by |
dbSNP | rs193919333 |
dbSNP (classic) | rs193919333 |
ClinGen | rs193919333 |
ebi | rs193919333 |
HLI | rs193919333 |
Exac | rs193919333 |
Gnomad | rs193919333 |
Varsome | rs193919333 |
LitVar | rs193919333 |
Map | rs193919333 |
PheGenI | rs193919333 |
Biobank | rs193919333 |
1000 genomes | rs193919333 |
hgdp | rs193919333 |
ensembl | rs193919333 |
geneview | rs193919333 |
scholar | rs193919333 |
rs193919333 | |
pharmgkb | rs193919333 |
gwascentral | rs193919333 |
openSNP | rs193919333 |
23andMe | rs193919333 |
SNPshot | rs193919333 |
SNPdbe | rs193919333 |
MSV3d | rs193919333 |
GWAS Ctlg | rs193919333 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs193919333(G;G) |
Alt | rs193919333(G;G) |
Reference | Rs193919333(T;T) |
Significance | Pathogenic |
Disease | Deafness |
Variation | info |
Gene | MYO3A |
CLNDBN | Deafness, autosomal recessive 30 |
Reversed | 0 |
HGVS | NC_000010.10:g.26457658T>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000004229.2, |