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rs121918208

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918208(G;T)
Make rs121918208(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position173831593
GeneDARS2
is asnp
is mentioned by
dbSNPrs121918208
ebirs121918208
HLIrs121918208
Exacrs121918208
Varsomers121918208
Maprs121918208
PheGenIrs121918208
hapmaprs121918208
1000 genomesrs121918208
hgdprs121918208
ensemblrs121918208
gopubmedrs121918208
geneviewrs121918208
scholarrs121918208
googlers121918208
pharmgkbrs121918208
gwascentralrs121918208
openSNPrs121918208
23andMers121918208
23andMe allrs121918208
SNP Nexus

SNPshotrs121918208
SNPdbers121918208
MSV3drs121918208
GWAS Ctlgrs121918208
Max Magnitude0
OMIM610956
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121918208(T;T)
Alt rs121918208(T;T)
Reference rs121918208(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.173800731G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001116.3,