rs878854412
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs878854412(C;C) |
Make rs878854412(C;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 17 |
Position | 18137584 |
Gene | MYO15A |
is a | snp |
is | mentioned by |
dbSNP | rs878854412 |
dbSNP (classic) | rs878854412 |
ClinGen | rs878854412 |
ebi | rs878854412 |
HLI | rs878854412 |
Exac | rs878854412 |
Gnomad | rs878854412 |
Varsome | rs878854412 |
LitVar | rs878854412 |
Map | rs878854412 |
PheGenI | rs878854412 |
Biobank | rs878854412 |
1000 genomes | rs878854412 |
hgdp | rs878854412 |
ensembl | rs878854412 |
geneview | rs878854412 |
scholar | rs878854412 |
rs878854412 | |
pharmgkb | rs878854412 |
gwascentral | rs878854412 |
openSNP | rs878854412 |
23andMe | rs878854412 |
SNPshot | rs878854412 |
SNPdbe | rs878854412 |
MSV3d | rs878854412 |
GWAS Ctlg | rs878854412 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs878854412(C;C) |
Alt | rs878854412(C;C) |
Reference | Rs878854412(G;G) |
Significance | Pathogenic |
Disease | Deafness |
Variation | info |
Gene | MYO15A |
CLNDBN | Deafness, autosomal recessive 3 |
Reversed | 0 |
HGVS | NC_000017.10:g.18040898G>C |
CLNSRC | |
CLNACC | RCV000233468.1, |