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rs367543010

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
(TT;TT) 0 common in clinvar
(TTT;TTT) 0 common in clinvar
Make rs367543010(C;C)
Make rs367543010(C;TT)
ReferenceGRCh38 38.1/141
Chromosome1
Position173828312
GeneDARS2
is asnp
is mentioned by
dbSNPrs367543010
ebirs367543010
HLIrs367543010
Exacrs367543010
Varsomers367543010
Maprs367543010
PheGenIrs367543010
hapmaprs367543010
1000 genomesrs367543010
hgdprs367543010
ensemblrs367543010
gopubmedrs367543010
geneviewrs367543010
scholarrs367543010
googlers367543010
pharmgkbrs367543010
gwascentralrs367543010
openSNPrs367543010
23andMers367543010
23andMe allrs367543010
SNP Nexus

SNPshotrs367543010
SNPdbers367543010
MSV3drs367543010
GWAS Ctlgrs367543010
Max Magnitude0
ClinVar
Risk rs367543010(TC,TCC,TTT;TC,TCC,TTT)
Alt rs367543010(TC,TCC,TTT;TC,TCC,TTT)
Reference rs367543010(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.173797450_173797451delTTinsC
CLNSRC OMIM Allelic Variant
CLNACC RCV000001112.3,


[PMID 20506600] Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation