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rs397514625

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397514625(A;C)
Make rs397514625(C;C)
ReferenceGRCh37.p10 37.5/138
Chromosome11
Position823579
GenePNPLA2
is asnp
is mentioned by
dbSNPrs397514625
ebirs397514625
HLIrs397514625
Exacrs397514625
Varsomers397514625
Maprs397514625
PheGenIrs397514625
hapmaprs397514625
1000 genomesrs397514625
hgdprs397514625
ensemblrs397514625
gopubmedrs397514625
geneviewrs397514625
scholarrs397514625
googlers397514625
pharmgkbrs397514625
gwascentralrs397514625
openSNPrs397514625
23andMers397514625
23andMe allrs397514625
SNP Nexus

SNPshotrs397514625
SNPdbers397514625
MSV3drs397514625
GWAS Ctlgrs397514625
Max Magnitude0
ClinVar
Risk rs397514625(C;C)
Alt rs397514625(C;C)
Reference rs397514625(A;A)
Significance Pathogenic
Disease Neutral lipid storage disease with myopathy
Variation info
Gene PNPLA2 RPLP2
CLNDBN Neutral lipid storage disease with myopathy
Reversed 0
HGVS NC_000011.9:g.823579A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000033093.3,