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rs587784327

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587784327(A;A)
Make rs587784327(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome22
Position38129523
GenePLA2G6
is asnp
is mentioned by
dbSNPrs587784327
dbSNP (old)rs587784327
ClinGenrs587784327
ebirs587784327
HLIrs587784327
Exacrs587784327
Varsomers587784327
Maprs587784327
PheGenIrs587784327
Biobankrs587784327
1000 genomesrs587784327
hgdprs587784327
ensemblrs587784327
gopubmedrs587784327
geneviewrs587784327
scholarrs587784327
googlers587784327
pharmgkbrs587784327
gwascentralrs587784327
openSNPrs587784327
23andMers587784327
23andMe allrs587784327
SNP Nexus

SNPshotrs587784327
SNPdbers587784327
MSV3drs587784327
GWAS Ctlgrs587784327
Max Magnitude0
ClinVar
Risk rs587784327(A;A)
Alt rs587784327(A;A)
Reference Rs587784327(G;G)
Significance Pathogenic
Disease Iron accumulation in brain Infantile neuroaxonal dystrophy
Variation info
Gene PLA2G6
CLNDBN Iron accumulation in brain Infantile neuroaxonal dystrophy
Reversed 1
HGVS NC_000022.10:g.38525530C>T
CLNSRC
CLNACC RCV000147283.1, RCV000199765.1,