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rs397515356

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CTGGC;CTGGC) 0 common in clinvar
(TGGCC;TGGCC) 0 common in clinvar
Make rs397515356(-;-)
Make rs397515356(-;TGGCC)
ReferenceGRCh38 38.1/141
Chromosome2
Position218813023
GeneCYP27A1
is asnp
is mentioned by
dbSNPrs397515356
ebirs397515356
HLIrs397515356
Exacrs397515356
Varsomers397515356
Maprs397515356
PheGenIrs397515356
hapmaprs397515356
1000 genomesrs397515356
hgdprs397515356
ensemblrs397515356
gopubmedrs397515356
geneviewrs397515356
scholarrs397515356
googlers397515356
pharmgkbrs397515356
gwascentralrs397515356
openSNPrs397515356
23andMers397515356
23andMe allrs397515356
SNP Nexus

SNPshotrs397515356
SNPdbers397515356
MSV3drs397515356
GWAS Ctlgrs397515356
Max Magnitude0
ClinVar
Risk rs397515356(;)
Alt rs397515356(;)
Reference rs397515356(CTGGC;CTGGC)
Significance Pathogenic
Disease Cholestanol storage disease
Variation info
Gene CYP27A1
CLNDBN Cholestanol storage disease
Reversed 0
HGVS NC_000002.11:g.219677746_219677750delTGGCC
CLNSRC OMIM Allelic Variant
CLNACC RCV000004486.2,