Have questions? Visit https://www.reddit.com/r/SNPedia

rs587778810

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587778810(A;A)
Make rs587778810(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position218812684
GeneCYP27A1
is asnp
is mentioned by
dbSNPrs587778810
dbSNP (classic)rs587778810
ClinGenrs587778810
ebirs587778810
HLIrs587778810
Exacrs587778810
Gnomadrs587778810
Varsomers587778810
LitVarrs587778810
Maprs587778810
PheGenIrs587778810
Biobankrs587778810
1000 genomesrs587778810
hgdprs587778810
ensemblrs587778810
geneviewrs587778810
scholarrs587778810
googlers587778810
pharmgkbrs587778810
gwascentralrs587778810
openSNPrs587778810
23andMers587778810
SNPshotrs587778810
SNPdbers587778810
MSV3drs587778810
GWAS Ctlgrs587778810
Max Magnitude0
ClinVar
Risk rs587778810(A;A)
Alt rs587778810(A;A)
Reference Rs587778810(G;G)
Significance Pathogenic
Disease Cholestanol storage disease
Variation info
Gene CYP27A1
CLNDBN Cholestanol storage disease
Reversed 0
HGVS NC_000002.11:g.219677407G>A
CLNSRC
CLNACC RCV000056145.1,