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rs587784329

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587784329(-;-)
Make rs587784329(-;C)
ReferenceGRCh38.p2 38.2/144
Chromosome22
Position38126447
GenePLA2G6
is asnp
is mentioned by
dbSNPrs587784329
dbSNP (classic)rs587784329
ClinGenrs587784329
ebirs587784329
HLIrs587784329
Exacrs587784329
Gnomadrs587784329
Varsomers587784329
LitVarrs587784329
Maprs587784329
PheGenIrs587784329
Biobankrs587784329
1000 genomesrs587784329
hgdprs587784329
ensemblrs587784329
geneviewrs587784329
scholarrs587784329
googlers587784329
pharmgkbrs587784329
gwascentralrs587784329
openSNPrs587784329
23andMers587784329
SNPshotrs587784329
SNPdbers587784329
MSV3drs587784329
GWAS Ctlgrs587784329
Max Magnitude0
ClinVar
Risk rs587784329(-;-)
Alt rs587784329(-;-)
Reference Rs587784329(C;C)
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.38522454delG
CLNSRC
CLNACC RCV000147285.1, RCV000184033.1,