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rs527236040

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs527236040(A;T)
Make rs527236040(T;T)
ReferenceGRCh38 38.1/142
Chromosome2
Position135920573
GeneDARS
is asnp
is mentioned by
dbSNPrs527236040
ebirs527236040
HLIrs527236040
Exacrs527236040
Varsomers527236040
Maprs527236040
PheGenIrs527236040
hapmaprs527236040
1000 genomesrs527236040
hgdprs527236040
ensemblrs527236040
gopubmedrs527236040
geneviewrs527236040
scholarrs527236040
googlers527236040
pharmgkbrs527236040
gwascentralrs527236040
openSNPrs527236040
23andMers527236040
23andMe allrs527236040
SNP Nexus

SNPshotrs527236040
SNPdbers527236040
MSV3drs527236040
GWAS Ctlgrs527236040
Max Magnitude0
ClinVar
Risk rs527236040(T;T)
Alt rs527236040(T;T)
Reference rs527236040(A;A)
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.136678143T>A
CLNSRC ClinVar
CLNACC RCV000132724.1,