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rs370064817

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs370064817(C;G)
Make rs370064817(G;G)
ReferenceGRCh38 38.1/142
Chromosome2
Position135916233
GeneDARS
is asnp
is mentioned by
dbSNPrs370064817
ebirs370064817
HLIrs370064817
Exacrs370064817
Varsomers370064817
Maprs370064817
PheGenIrs370064817
hapmaprs370064817
1000 genomesrs370064817
hgdprs370064817
ensemblrs370064817
gopubmedrs370064817
geneviewrs370064817
scholarrs370064817
googlers370064817
pharmgkbrs370064817
gwascentralrs370064817
openSNPrs370064817
23andMers370064817
23andMe allrs370064817
SNP Nexus

SNPshotrs370064817
SNPdbers370064817
MSV3drs370064817
GWAS Ctlgrs370064817
Max Magnitude0
ClinVar
Risk rs370064817(A,G,T;A,G,T)
Alt rs370064817(A,G,T;A,G,T)
Reference rs370064817(C;C)
Significance Pathogenic
Disease Hypomyelination with brainstem and spinal cord involvement and leg spasticity
Variation info
Gene DARS
CLNDBN Hypomyelination with brainstem and spinal cord involvement and leg spasticity
Reversed 0
HGVS NC_000002.11:g.136673803C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000043682.2,