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rs121918205

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918205(C;G)
Make rs121918205(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position173857643
GeneDARS2
is asnp
is mentioned by
dbSNPrs121918205
dbSNP (classic)rs121918205
ClinGenrs121918205
ebirs121918205
HLIrs121918205
Exacrs121918205
Gnomadrs121918205
Varsomers121918205
LitVarrs121918205
Maprs121918205
PheGenIrs121918205
Biobankrs121918205
1000 genomesrs121918205
hgdprs121918205
ensemblrs121918205
geneviewrs121918205
scholarrs121918205
googlers121918205
pharmgkbrs121918205
gwascentralrs121918205
openSNPrs121918205
23andMers121918205
SNPshotrs121918205
SNPdbers121918205
MSV3drs121918205
GWAS Ctlgrs121918205
Max Magnitude0
OMIM610956
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121918205(G;G)
Alt rs121918205(G;G)
Reference Rs121918205(C;C)
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.173826781C>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000001113.3,