rs376478331
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs376478331(G;T) |
Make rs376478331(T;T) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 1 |
Position | 226986495 |
Gene | ADCK3, COQ8A |
is a | snp |
is | mentioned by |
dbSNP | rs376478331 |
dbSNP (classic) | rs376478331 |
ClinGen | rs376478331 |
ebi | rs376478331 |
HLI | rs376478331 |
Exac | rs376478331 |
Gnomad | rs376478331 |
Varsome | rs376478331 |
LitVar | rs376478331 |
Map | rs376478331 |
PheGenI | rs376478331 |
Biobank | rs376478331 |
1000 genomes | rs376478331 |
hgdp | rs376478331 |
ensembl | rs376478331 |
geneview | rs376478331 |
scholar | rs376478331 |
rs376478331 | |
pharmgkb | rs376478331 |
gwascentral | rs376478331 |
openSNP | rs376478331 |
23andMe | rs376478331 |
SNPshot | rs376478331 |
SNPdbe | rs376478331 |
MSV3d | rs376478331 |
GWAS Ctlg | rs376478331 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs376478331(A;A) rs376478331(C;C) rs376478331(T;T) |
Alt | rs376478331(A;A) rs376478331(C;C) rs376478331(T;T) |
Reference | Rs376478331(G;G) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | COQ8A ADCK3 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000001.10:g.227174196G>T |
CLNSRC | |
CLNACC | RCV000342803.1, |