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rs587784343

From SNPedia

Orientationminus
Geno Mag Summary
(TGT;TGT) 0 common in clinvar
Make rs587784343(-;-)
Make rs587784343(-;GTT)
Make rs587784343(GTT;GTT)
ReferenceGRCh38.p2 38.2/144
Chromosome22
Position38113619
GenePLA2G6
is asnp
is mentioned by
dbSNPrs587784343
ebirs587784343
HLIrs587784343
Exacrs587784343
Varsomers587784343
Maprs587784343
PheGenIrs587784343
hapmaprs587784343
1000 genomesrs587784343
hgdprs587784343
ensemblrs587784343
gopubmedrs587784343
geneviewrs587784343
scholarrs587784343
googlers587784343
pharmgkbrs587784343
gwascentralrs587784343
openSNPrs587784343
23andMers587784343
23andMe allrs587784343
SNP Nexus

SNPshotrs587784343
SNPdbers587784343
MSV3drs587784343
GWAS Ctlgrs587784343
Max Magnitude0
ClinVar
Risk rs587784343(;)
Alt rs587784343(;)
Reference rs587784343(TGT;TGT)
Significance Pathogenic
Disease Infantile neuroaxonal dystrophy Iron accumulation in brain
Variation info
Gene PLA2G6
CLNDBN Infantile neuroaxonal dystrophy Iron accumulation in brain
Reversed 1
HGVS NC_000022.10:g.38509624_38509626delACA
CLNSRC OMIM Allelic Variant
CLNACC RCV000006575.4, RCV000147311.3,