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rs121918213

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121918213(A;A)
Make rs121918213(A;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position173857644
GeneDARS2
is asnp
is mentioned by
dbSNPrs121918213
dbSNP (classic)rs121918213
ClinGenrs121918213
ebirs121918213
HLIrs121918213
Exacrs121918213
Gnomadrs121918213
Varsomers121918213
LitVarrs121918213
Maprs121918213
PheGenIrs121918213
Biobankrs121918213
1000 genomesrs121918213
hgdprs121918213
ensemblrs121918213
geneviewrs121918213
scholarrs121918213
googlers121918213
pharmgkbrs121918213
gwascentralrs121918213
openSNPrs121918213
23andMers121918213
SNPshotrs121918213
SNPdbers121918213
MSV3drs121918213
GWAS Ctlgrs121918213
Max Magnitude0
OMIM610956
Desc
Variant0011
Relatedalso
ClinVar
Risk rs121918213(A;A)
Alt rs121918213(A;A)
Reference Rs121918213(T;T)
Significance Pathogenic
Disease Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
Variation info
Gene DARS2
CLNDBN Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
Reversed 0
HGVS NC_000001.10:g.173826782T>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000001122.3,