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rs121918137

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121918137(C;C)
Make rs121918137(C;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position166931061
GeneRNASET2
is asnp
is mentioned by
dbSNPrs121918137
dbSNP (classic)rs121918137
ClinGenrs121918137
ebirs121918137
HLIrs121918137
Exacrs121918137
Gnomadrs121918137
Varsomers121918137
LitVarrs121918137
Maprs121918137
PheGenIrs121918137
Biobankrs121918137
1000 genomesrs121918137
hgdprs121918137
ensemblrs121918137
geneviewrs121918137
scholarrs121918137
googlers121918137
pharmgkbrs121918137
gwascentralrs121918137
openSNPrs121918137
23andMers121918137
SNPshotrs121918137
SNPdbers121918137
MSV3drs121918137
GWAS Ctlgrs121918137
Max Magnitude0
OMIM612944
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121918137(C;C)
Alt rs121918137(C;C)
Reference Rs121918137(T;T)
Significance Pathogenic
Disease Leukoencephalopathy
Variation info
Gene RNASET2
CLNDBN Leukoencephalopathy, cystic, without megalencephaly
Reversed 1
HGVS NC_000006.11:g.167344549A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000000440.2,