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rs121908681

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121908681(A;C)
Make rs121908681(C;C)
ReferenceGRCh38 38.1/141
Chromosome22
Position38120867
GenePLA2G6
is asnp
is mentioned by
dbSNPrs121908681
dbSNP (classic)rs121908681
ClinGenrs121908681
ebirs121908681
HLIrs121908681
Exacrs121908681
Gnomadrs121908681
Varsomers121908681
LitVarrs121908681
Maprs121908681
PheGenIrs121908681
Biobankrs121908681
1000 genomesrs121908681
hgdprs121908681
ensemblrs121908681
geneviewrs121908681
scholarrs121908681
googlers121908681
pharmgkbrs121908681
gwascentralrs121908681
openSNPrs121908681
23andMers121908681
SNPshotrs121908681
SNPdbers121908681
MSV3drs121908681
GWAS Ctlgrs121908681
Max Magnitude0
OMIM603604
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121908681(C;C) rs121908681(G;G)
Alt rs121908681(C;C) rs121908681(G;G)
Reference Rs121908681(A;A)
Significance Pathogenic
Disease Iron accumulation in brain Neurodegeneration with brain iron accumulation 2b
Variation info
Gene PLA2G6
CLNDBN Iron accumulation in brain Neurodegeneration with brain iron accumulation 2b
Reversed 1
HGVS NC_000022.10:g.38516874T>C; NC_000022.10:g.38516874T>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000147296.1, RCV000006573.2,