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rs869320738

From SNPedia

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Geno Mag Summary
(G;G) 0 common in clinvar
Make rs869320738(G;T)
Make rs869320738(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome11
Position823588
GenePNPLA2
is asnp
is mentioned by
dbSNPrs869320738
ebirs869320738
HLIrs869320738
Exacrs869320738
Varsomers869320738
Maprs869320738
PheGenIrs869320738
hapmaprs869320738
1000 genomesrs869320738
hgdprs869320738
ensemblrs869320738
gopubmedrs869320738
geneviewrs869320738
scholarrs869320738
googlers869320738
pharmgkbrs869320738
gwascentralrs869320738
openSNPrs869320738
23andMers869320738
23andMe allrs869320738
SNP Nexus

SNPshotrs869320738
SNPdbers869320738
MSV3drs869320738
GWAS Ctlgrs869320738
Max Magnitude0
ClinVar
Risk rs869320738(T;T)
Alt rs869320738(T;T)
Reference rs869320738(G;G)
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.823588G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000033094.3,