rs201978571
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs201978571(A;A) |
Make rs201978571(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 17 |
Position | 18143797 |
Gene | MYO15A |
is a | snp |
is | mentioned by |
dbSNP | rs201978571 |
dbSNP (classic) | rs201978571 |
ClinGen | rs201978571 |
ebi | rs201978571 |
HLI | rs201978571 |
Exac | rs201978571 |
Gnomad | rs201978571 |
Varsome | rs201978571 |
LitVar | rs201978571 |
Map | rs201978571 |
PheGenI | rs201978571 |
Biobank | rs201978571 |
1000 genomes | rs201978571 |
hgdp | rs201978571 |
ensembl | rs201978571 |
geneview | rs201978571 |
scholar | rs201978571 |
rs201978571 | |
pharmgkb | rs201978571 |
gwascentral | rs201978571 |
openSNP | rs201978571 |
23andMe | rs201978571 |
SNPshot | rs201978571 |
SNPdbe | rs201978571 |
MSV3d | rs201978571 |
GWAS Ctlg | rs201978571 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs201978571(A;A) |
Alt | rs201978571(A;A) |
Reference | Rs201978571(G;G) |
Significance | Pathogenic |
Disease | Nonsyndromic hearing loss and deafness |
Variation | info |
Gene | MYO15A |
CLNDBN | Nonsyndromic hearing loss and deafness |
Reversed | 0 |
HGVS | NC_000017.10:g.18047111G>A |
CLNSRC | |
CLNACC | RCV000151398.1, |