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rs587776984

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common in clinvar
Make rs587776984(A;A)
Make rs587776984(A;G)
ReferenceGRCh38 38.1/142
Chromosome2
Position135907363
GeneDARS
is asnp
is mentioned by
dbSNPrs587776984
ebirs587776984
HLIrs587776984
Exacrs587776984
Varsomers587776984
Maprs587776984
PheGenIrs587776984
hapmaprs587776984
1000 genomesrs587776984
hgdprs587776984
ensemblrs587776984
gopubmedrs587776984
geneviewrs587776984
scholarrs587776984
googlers587776984
pharmgkbrs587776984
gwascentralrs587776984
openSNPrs587776984
23andMers587776984
23andMe allrs587776984
SNP Nexus

SNPshotrs587776984
SNPdbers587776984
MSV3drs587776984
GWAS Ctlgrs587776984
Max Magnitude0
ClinVar
Risk rs587776984(A,G;A,G)
Alt rs587776984(A,G;A,G)
Reference rs587776984(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 1
HGVS NC_000002.11:g.136664933G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000043685.3,