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

rs121918206

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918206(C;T)
Make rs121918206(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position173838206
GeneDARS2
is asnp
is mentioned by
dbSNPrs121918206
dbSNP (classic)rs121918206
ClinGenrs121918206
ebirs121918206
HLIrs121918206
Exacrs121918206
Gnomadrs121918206
Varsomers121918206
LitVarrs121918206
Maprs121918206
PheGenIrs121918206
Biobankrs121918206
1000 genomesrs121918206
hgdprs121918206
ensemblrs121918206
geneviewrs121918206
scholarrs121918206
googlers121918206
pharmgkbrs121918206
gwascentralrs121918206
openSNPrs121918206
23andMers121918206
SNPshotrs121918206
SNPdbers121918206
MSV3drs121918206
GWAS Ctlgrs121918206
Max Magnitude0
OMIM610956
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121918206(T;T)
Alt rs121918206(T;T)
Reference Rs121918206(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.173807344C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001114.3,