rs199874519
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs199874519(A;A) |
Make rs199874519(A;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 1 |
Position | 226986458 |
Gene | ADCK3, COQ8A |
is a | snp |
is | mentioned by |
dbSNP | rs199874519 |
dbSNP (classic) | rs199874519 |
ClinGen | rs199874519 |
ebi | rs199874519 |
HLI | rs199874519 |
Exac | rs199874519 |
Gnomad | rs199874519 |
Varsome | rs199874519 |
LitVar | rs199874519 |
Map | rs199874519 |
PheGenI | rs199874519 |
Biobank | rs199874519 |
1000 genomes | rs199874519 |
hgdp | rs199874519 |
ensembl | rs199874519 |
geneview | rs199874519 |
scholar | rs199874519 |
rs199874519 | |
pharmgkb | rs199874519 |
gwascentral | rs199874519 |
openSNP | rs199874519 |
23andMe | rs199874519 |
SNPshot | rs199874519 |
SNPdbe | rs199874519 |
MSV3d | rs199874519 |
GWAS Ctlg | rs199874519 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199874519(A;A) |
Alt | rs199874519(A;A) |
Reference | Rs199874519(G;G) |
Significance | Probable-Pathogenic |
Disease | Inborn genetic diseases not provided |
Variation | info |
Gene | COQ8A ADCK3 |
CLNDBN | Inborn genetic diseases not provided |
Reversed | 0 |
HGVS | NC_000001.10:g.227174159G>A |
CLNSRC | |
CLNACC | RCV000210698.1, RCV000482785.1, |