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rs774184465

From SNPedia

Orientationplus
Geno Mag Summary
(AG;AG) 0 common in clinvar
Make rs774184465(-;-)
Make rs774184465(-;AG)
ReferenceGRCh38.p2 38.2/144
Chromosome7
Position108472474
GenePNPLA8
is asnp
is mentioned by
dbSNPrs774184465
ebirs774184465
HLIrs774184465
Exacrs774184465
Varsomers774184465
Maprs774184465
PheGenIrs774184465
hapmaprs774184465
1000 genomesrs774184465
hgdprs774184465
ensemblrs774184465
gopubmedrs774184465
geneviewrs774184465
scholarrs774184465
googlers774184465
pharmgkbrs774184465
gwascentralrs774184465
openSNPrs774184465
23andMers774184465
23andMe allrs774184465
SNP Nexus

SNPshotrs774184465
SNPdbers774184465
MSV3drs774184465
GWAS Ctlgrs774184465
Max Magnitude0
ClinVar
Risk rs774184465(;)
Alt rs774184465(;)
Reference rs774184465(AG;AG)
Significance Pathogenic
Disease Mitochondrial myopathy with lactic acidosis
Variation info
Gene PNPLA8
CLNDBN Mitochondrial myopathy with lactic acidosis
Reversed 0
HGVS NC_000007.13:g.108112918_108112919delAG
CLNSRC OMIM Allelic Variant
CLNACC RCV000170362.4,