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rs121908685

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908685(A;A)
Make rs121908685(A;G)
ReferenceGRCh38 38.1/141
Chromosome22
Position38145625
GenePLA2G6
is asnp
is mentioned by
dbSNPrs121908685
dbSNP (classic)rs121908685
ClinGenrs121908685
ebirs121908685
HLIrs121908685
Exacrs121908685
Gnomadrs121908685
Varsomers121908685
LitVarrs121908685
Maprs121908685
PheGenIrs121908685
Biobankrs121908685
1000 genomesrs121908685
hgdprs121908685
ensemblrs121908685
geneviewrs121908685
scholarrs121908685
googlers121908685
pharmgkbrs121908685
gwascentralrs121908685
openSNPrs121908685
23andMers121908685
SNPshotrs121908685
SNPdbers121908685
MSV3drs121908685
GWAS Ctlgrs121908685
Max Magnitude0
OMIM603604
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121908685(A;A) rs121908685(T;T)
Alt rs121908685(A;A) rs121908685(T;T)
Reference Rs121908685(G;G)
Significance Pathogenic
Disease Neurodegeneration with brain iron accumulation 2b
Variation info
Gene PLA2G6
CLNDBN Neurodegeneration with brain iron accumulation 2b
Reversed 1
HGVS NC_000022.10:g.38541632C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006580.3,