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rs587778777

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587778777(A;A)
Make rs587778777(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position218814188
GeneCYP27A1
is asnp
is mentioned by
dbSNPrs587778777
dbSNP (classic)rs587778777
ClinGenrs587778777
ebirs587778777
HLIrs587778777
Exacrs587778777
Gnomadrs587778777
Varsomers587778777
LitVarrs587778777
Maprs587778777
PheGenIrs587778777
Biobankrs587778777
1000 genomesrs587778777
hgdprs587778777
ensemblrs587778777
geneviewrs587778777
scholarrs587778777
googlers587778777
pharmgkbrs587778777
gwascentralrs587778777
openSNPrs587778777
23andMers587778777
SNPshotrs587778777
SNPdbers587778777
MSV3drs587778777
GWAS Ctlgrs587778777
Max Magnitude0
ClinVar
Risk rs587778777(A;A)
Alt rs587778777(A;A)
Reference Rs587778777(G;G)
Significance Pathogenic
Disease Cholestanol storage disease not provided
Variation info
Gene CYP27A1
CLNDBN Cholestanol storage disease not provided
Reversed 0
HGVS NC_000002.11:g.219678911G>A
CLNSRC
CLNACC RCV000056073.1, RCV000255284.1,