rs869312939
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs869312939(C;C) |
Make rs869312939(C;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 16 |
Position | 56192588 |
Gene | DKFZP434H168, GNAO1, LOC283856 |
is a | snp |
is | mentioned by |
dbSNP | rs869312939 |
dbSNP (classic) | rs869312939 |
ClinGen | rs869312939 |
ebi | rs869312939 |
HLI | rs869312939 |
Exac | rs869312939 |
Gnomad | rs869312939 |
Varsome | rs869312939 |
LitVar | rs869312939 |
Map | rs869312939 |
PheGenI | rs869312939 |
Biobank | rs869312939 |
1000 genomes | rs869312939 |
hgdp | rs869312939 |
ensembl | rs869312939 |
geneview | rs869312939 |
scholar | rs869312939 |
rs869312939 | |
pharmgkb | rs869312939 |
gwascentral | rs869312939 |
openSNP | rs869312939 |
23andMe | rs869312939 |
SNPshot | rs869312939 |
SNPdbe | rs869312939 |
MSV3d | rs869312939 |
GWAS Ctlg | rs869312939 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs869312939(C;C) |
Alt | rs869312939(C;C) |
Reference | Rs869312939(G;G) |
Significance | Pathogenic |
Disease | Inborn genetic diseases |
Variation | info |
Gene | DKFZP434H168 LOC283856 GNAO1 |
CLNDBN | Inborn genetic diseases |
Reversed | 0 |
HGVS | NC_000016.9:g.56226500G>C |
CLNSRC | |
CLNACC | RCV000210693.1, |