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rs121918210

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918210(A;A)
Make rs121918210(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position173833419
GeneDARS2
is asnp
is mentioned by
dbSNPrs121918210
dbSNP (classic)rs121918210
ClinGenrs121918210
ebirs121918210
HLIrs121918210
Exacrs121918210
Gnomadrs121918210
Varsomers121918210
LitVarrs121918210
Maprs121918210
PheGenIrs121918210
Biobankrs121918210
1000 genomesrs121918210
hgdprs121918210
ensemblrs121918210
geneviewrs121918210
scholarrs121918210
googlers121918210
pharmgkbrs121918210
gwascentralrs121918210
openSNPrs121918210
23andMers121918210
SNPshotrs121918210
SNPdbers121918210
MSV3drs121918210
GWAS Ctlgrs121918210
Max Magnitude0
OMIM610956
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121918210(A;A)
Alt rs121918210(A;A)
Reference Rs121918210(G;G)
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.173802557G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000001119.3,