rs374742590
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs374742590(A;A) |
Make rs374742590(A;G) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 17 |
Position | 18126457 |
Gene | MYO15A |
is a | snp |
is | mentioned by |
dbSNP | rs374742590 |
dbSNP (classic) | rs374742590 |
ClinGen | rs374742590 |
ebi | rs374742590 |
HLI | rs374742590 |
Exac | rs374742590 |
Gnomad | rs374742590 |
Varsome | rs374742590 |
LitVar | rs374742590 |
Map | rs374742590 |
PheGenI | rs374742590 |
Biobank | rs374742590 |
1000 genomes | rs374742590 |
hgdp | rs374742590 |
ensembl | rs374742590 |
geneview | rs374742590 |
scholar | rs374742590 |
rs374742590 | |
pharmgkb | rs374742590 |
gwascentral | rs374742590 |
openSNP | rs374742590 |
23andMe | rs374742590 |
SNPshot | rs374742590 |
SNPdbe | rs374742590 |
MSV3d | rs374742590 |
GWAS Ctlg | rs374742590 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs374742590(A;A) |
Alt | rs374742590(A;A) |
Reference | Rs374742590(G;G) |
Significance | Pathogenic |
Disease | Deafness |
Variation | info |
Gene | MYO15A |
CLNDBN | Deafness, autosomal recessive 3 |
Reversed | 0 |
HGVS | NC_000017.10:g.18029771G>A |
CLNSRC | |
CLNACC | RCV000373141.1, |