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rs786205882

From SNPedia

Orientationminus
Geno Mag Summary
(AATT;AATT) 0 common in clinvar
Make rs786205882(-;-)
Make rs786205882(-;AATT)
ReferenceGRCh38.p2 38.2/146
Chromosome7
Position108514855
GenePNPLA8
is asnp
is mentioned by
dbSNPrs786205882
ebirs786205882
HLIrs786205882
Exacrs786205882
Varsomers786205882
Maprs786205882
PheGenIrs786205882
hapmaprs786205882
1000 genomesrs786205882
hgdprs786205882
ensemblrs786205882
gopubmedrs786205882
geneviewrs786205882
scholarrs786205882
googlers786205882
pharmgkbrs786205882
gwascentralrs786205882
openSNPrs786205882
23andMers786205882
23andMe allrs786205882
SNP Nexus

SNPshotrs786205882
SNPdbers786205882
MSV3drs786205882
GWAS Ctlgrs786205882
Max Magnitude0
ClinVar
Risk rs786205882(;)
Alt rs786205882(;)
Reference rs786205882(AATT;AATT)
Significance Pathogenic
Disease Mitochondrial myopathy with lactic acidosis
Variation info
Gene PNPLA8
CLNDBN Mitochondrial myopathy with lactic acidosis
Reversed 1
HGVS NC_000007.13:g.108155299_108155302delAATT
CLNSRC OMIM Allelic Variant
CLNACC RCV000170361.4,