rs878853239
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(CG;CG) | 0 | common in clinvar |
Make rs878853239(-;-) |
Make rs878853239(-;CG) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 17 |
Position | 18119173 |
Gene | LOC105371566, MYO15A |
is a | snp |
is | mentioned by |
dbSNP | rs878853239 |
dbSNP (classic) | rs878853239 |
ClinGen | rs878853239 |
ebi | rs878853239 |
HLI | rs878853239 |
Exac | rs878853239 |
Gnomad | rs878853239 |
Varsome | rs878853239 |
LitVar | rs878853239 |
Map | rs878853239 |
PheGenI | rs878853239 |
Biobank | rs878853239 |
1000 genomes | rs878853239 |
hgdp | rs878853239 |
ensembl | rs878853239 |
geneview | rs878853239 |
scholar | rs878853239 |
rs878853239 | |
pharmgkb | rs878853239 |
gwascentral | rs878853239 |
openSNP | rs878853239 |
23andMe | rs878853239 |
SNPshot | rs878853239 |
SNPdbe | rs878853239 |
MSV3d | rs878853239 |
GWAS Ctlg | rs878853239 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs878853239(-;-) |
Alt | rs878853239(-;-) |
Reference | Rs878853239(CG;CG) |
Significance | Pathogenic |
Disease | Deafness |
Variation | info |
Gene | MYO15A |
CLNDBN | Deafness, autosomal recessive 3 |
Reversed | 0 |
HGVS | NC_000017.10:g.18022487_18022488delCG |
CLNSRC | |
CLNACC | RCV000225017.1, |