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rs147077598

From SNPedia

rare variant
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 5 likely hypomyelination with brainstem and spinal cord involvement and leg spasticity
(C;G) 3 unaffected carrier of rare mutation
(G;G) 0 common
ReferenceGRCh38 38.1/141
Chromosome2
Position135907342
GeneDARS
is asnp
is mentioned by
dbSNPrs147077598
ebirs147077598
HLIrs147077598
Exacrs147077598
Varsomers147077598
Maprs147077598
PheGenIrs147077598
hapmaprs147077598
1000 genomesrs147077598
hgdprs147077598
ensemblrs147077598
gopubmedrs147077598
geneviewrs147077598
scholarrs147077598
googlers147077598
pharmgkbrs147077598
gwascentralrs147077598
openSNPrs147077598
23andMers147077598
23andMe allrs147077598
SNP Nexus

SNPshotrs147077598
SNPdbers147077598
MSV3drs147077598
GWAS Ctlgrs147077598
Max Magnitude5
Rare mutation leading (when present in two copies or in addition to another mutation) to hypomyelination with brainstem and spinal cord involvement and leg spasticity.[PMID 23643384OA-icon.png]

See also: OMIM 603084

ClinVar
Risk rs147077598(A,C;A,C)
Alt rs147077598(A,C;A,C)
Reference rs147077598(G;G)
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.136664912G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000043687.3,