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rs587784344

From SNPedia

Orientationminus
Geno Mag Summary
(TGT;TGT) 0 common in clinvar
Make rs587784344(-;-)
Make rs587784344(-;TGT)
ReferenceGRCh38.p2 38.2/144
Chromosome22
Position38113617
GenePLA2G6
is asnp
is mentioned by
dbSNPrs587784344
ebirs587784344
HLIrs587784344
Exacrs587784344
Varsomers587784344
Maprs587784344
PheGenIrs587784344
hapmaprs587784344
1000 genomesrs587784344
hgdprs587784344
ensemblrs587784344
gopubmedrs587784344
geneviewrs587784344
scholarrs587784344
googlers587784344
pharmgkbrs587784344
gwascentralrs587784344
openSNPrs587784344
23andMers587784344
23andMe allrs587784344
SNP Nexus

SNPshotrs587784344
SNPdbers587784344
MSV3drs587784344
GWAS Ctlgrs587784344
Max Magnitude0
ClinVar
Risk rs587784344(;)
Alt rs587784344(;)
Reference rs587784344(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,