rs41272687
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs41272687(C;T) |
Make rs41272687(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 2 |
Position | 218814154 |
Gene | CYP27A1 |
is a | snp |
is | mentioned by |
dbSNP | rs41272687 |
dbSNP (classic) | rs41272687 |
ClinGen | rs41272687 |
ebi | rs41272687 |
HLI | rs41272687 |
Exac | rs41272687 |
Gnomad | rs41272687 |
Varsome | rs41272687 |
LitVar | rs41272687 |
Map | rs41272687 |
PheGenI | rs41272687 |
Biobank | rs41272687 |
1000 genomes | rs41272687 |
hgdp | rs41272687 |
ensembl | rs41272687 |
geneview | rs41272687 |
scholar | rs41272687 |
rs41272687 | |
pharmgkb | rs41272687 |
gwascentral | rs41272687 |
openSNP | rs41272687 |
23andMe | rs41272687 |
SNPshot | rs41272687 |
SNPdbe | rs41272687 |
MSV3d | rs41272687 |
GWAS Ctlg | rs41272687 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs41272687(T;T) |
Alt | rs41272687(T;T) |
Reference | Rs41272687(C;C) |
Significance | Other |
Disease | Cholestanol storage disease not specified |
Variation | info |
Gene | CYP27A1 |
CLNDBN | Cholestanol storage disease not specified |
Reversed | 0 |
HGVS | NC_000002.11:g.219678877C>T |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000056071.1, RCV000179342.4, |