rs397517287
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs397517287(-;-) |
Make rs397517287(-;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 18154142 |
Gene | LOC105371567, LOC105371568, MYO15A |
is a | snp |
is | mentioned by |
dbSNP | rs397517287 |
dbSNP (classic) | rs397517287 |
ClinGen | rs397517287 |
ebi | rs397517287 |
HLI | rs397517287 |
Exac | rs397517287 |
Gnomad | rs397517287 |
Varsome | rs397517287 |
LitVar | rs397517287 |
Map | rs397517287 |
PheGenI | rs397517287 |
Biobank | rs397517287 |
1000 genomes | rs397517287 |
hgdp | rs397517287 |
ensembl | rs397517287 |
geneview | rs397517287 |
scholar | rs397517287 |
rs397517287 | |
pharmgkb | rs397517287 |
gwascentral | rs397517287 |
openSNP | rs397517287 |
23andMe | rs397517287 |
SNPshot | rs397517287 |
SNPdbe | rs397517287 |
MSV3d | rs397517287 |
GWAS Ctlg | rs397517287 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397517287(-;-) |
Alt | rs397517287(-;-) |
Reference | Rs397517287(C;C) |
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.18057456delC |
CLNSRC | ClinVar |
CLNACC | RCV000038989.2, |