rs200883871
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs200883871(C;C) |
Make rs200883871(C;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 2 |
Position | 218814696 |
Gene | CYP27A1 |
is a | snp |
is | mentioned by |
dbSNP | rs200883871 |
dbSNP (classic) | rs200883871 |
ClinGen | rs200883871 |
ebi | rs200883871 |
HLI | rs200883871 |
Exac | rs200883871 |
Gnomad | rs200883871 |
Varsome | rs200883871 |
LitVar | rs200883871 |
Map | rs200883871 |
PheGenI | rs200883871 |
Biobank | rs200883871 |
1000 genomes | rs200883871 |
hgdp | rs200883871 |
ensembl | rs200883871 |
geneview | rs200883871 |
scholar | rs200883871 |
rs200883871 | |
pharmgkb | rs200883871 |
gwascentral | rs200883871 |
openSNP | rs200883871 |
23andMe | rs200883871 |
SNPshot | rs200883871 |
SNPdbe | rs200883871 |
MSV3d | rs200883871 |
GWAS Ctlg | rs200883871 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs200883871(C;C) |
Alt | rs200883871(C;C) |
Reference | Rs200883871(G;G) |
Significance | Pathogenic |
Disease | Cholestanol storage disease |
Variation | info |
Gene | CYP27A1 |
CLNDBN | Cholestanol storage disease |
Reversed | 0 |
HGVS | NC_000002.11:g.219679419G>C |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000056091.1, |