Have questions? Visit https://www.reddit.com/r/SNPedia

rs142433332

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs142433332(C;C)
Make rs142433332(C;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position173831632
GeneDARS2
is asnp
is mentioned by
dbSNPrs142433332
ebirs142433332
HLIrs142433332
Exacrs142433332
Varsomers142433332
Maprs142433332
PheGenIrs142433332
hapmaprs142433332
1000 genomesrs142433332
hgdprs142433332
ensemblrs142433332
gopubmedrs142433332
geneviewrs142433332
scholarrs142433332
googlers142433332
pharmgkbrs142433332
gwascentralrs142433332
openSNPrs142433332
23andMers142433332
23andMe allrs142433332
SNP Nexus

SNPshotrs142433332
SNPdbers142433332
MSV3drs142433332
GWAS Ctlgrs142433332
Max Magnitude0
ClinVar
Risk rs142433332(C,G;C,G)
Alt rs142433332(C,G;C,G)
Reference rs142433332(T;T)
Significance Pathogenic
Disease Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation
Variation info
Gene DARS2
CLNDBN Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation
Reversed 0
HGVS NC_000001.10:g.173800770T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000001117.5, RCV000194299.1,