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rs112205661

From SNPedia

rare variant
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common
(C;T) 2 unaffected carrier of rare mutation
(T;T) 5 likely hypomyelination with brainstem and spinal cord involvement and leg spasticity; see discussion
ReferenceGRCh38 38.1/141
Chromosome2
Position135920590
GeneDARS
is asnp
is mentioned by
dbSNPrs112205661
ebirs112205661
HLIrs112205661
Exacrs112205661
Varsomers112205661
Maprs112205661
PheGenIrs112205661
hapmaprs112205661
1000 genomesrs112205661
hgdprs112205661
ensemblrs112205661
gopubmedrs112205661
geneviewrs112205661
scholarrs112205661
googlers112205661
pharmgkbrs112205661
gwascentralrs112205661
openSNPrs112205661
23andMers112205661
23andMe allrs112205661
SNP Nexus

SNPshotrs112205661
SNPdbers112205661
MSV3drs112205661
GWAS Ctlgrs112205661
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