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rs200670286

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs200670286(C;T)
Make rs200670286(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position173857592
GeneDARS2
is asnp
is mentioned by
dbSNPrs200670286
dbSNP (classic)rs200670286
ClinGenrs200670286
ebirs200670286
HLIrs200670286
Exacrs200670286
Gnomadrs200670286
Varsomers200670286
LitVarrs200670286
Maprs200670286
PheGenIrs200670286
Biobankrs200670286
1000 genomesrs200670286
hgdprs200670286
ensemblrs200670286
geneviewrs200670286
scholarrs200670286
googlers200670286
pharmgkbrs200670286
gwascentralrs200670286
openSNPrs200670286
23andMers200670286
SNPshotrs200670286
SNPdbers200670286
MSV3drs200670286
GWAS Ctlgrs200670286
Max Magnitude0
ClinVar
Risk rs200670286(T;T)
Alt rs200670286(T;T)
Reference Rs200670286(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.173826730C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000023848.3,