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rs794729212

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794729212(A;A)
Make rs794729212(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome22
Position38115619
GenePLA2G6
is asnp
is mentioned by
dbSNPrs794729212
ebirs794729212
HLIrs794729212
Exacrs794729212
Varsomers794729212
Maprs794729212
PheGenIrs794729212
hapmaprs794729212
1000 genomesrs794729212
hgdprs794729212
ensemblrs794729212
gopubmedrs794729212
geneviewrs794729212
scholarrs794729212
googlers794729212
pharmgkbrs794729212
gwascentralrs794729212
openSNPrs794729212
23andMers794729212
23andMe allrs794729212
SNP Nexus

SNPshotrs794729212
SNPdbers794729212
MSV3drs794729212
GWAS Ctlgrs794729212
Max Magnitude0
ClinVar
Risk rs794729212(A;A)
Alt rs794729212(A;A)
Reference rs794729212(G;G)
Significance Probable-Pathogenic
Disease Infantile neuroaxonal dystrophy
Variation info
Gene PLA2G6
CLNDBN Infantile neuroaxonal dystrophy
Reversed 1
HGVS NC_000022.10:g.38511626C>T
CLNSRC
CLNACC RCV000184033.1,