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rs312262723

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs312262723(C;G)
Make rs312262723(G;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position44651712
GeneSPG11
is asnp
is mentioned by
dbSNPrs312262723
ebirs312262723
HLIrs312262723
Exacrs312262723
Varsomers312262723
Maprs312262723
PheGenIrs312262723
hapmaprs312262723
1000 genomesrs312262723
hgdprs312262723
ensemblrs312262723
gopubmedrs312262723
geneviewrs312262723
scholarrs312262723
googlers312262723
pharmgkbrs312262723
gwascentralrs312262723
openSNPrs312262723
23andMers312262723
23andMe allrs312262723
SNP Nexus

SNPshotrs312262723
SNPdbers312262723
MSV3drs312262723
GWAS Ctlgrs312262723
Max Magnitude0
ClinVar
Risk rs312262723(G,T;G,T)
Alt rs312262723(G,T;G,T)
Reference rs312262723(C;C)
Significance Pathogenic
Disease Spastic paraplegia 11
Variation info
Gene SPG11
CLNDBN Spastic paraplegia 11, autosomal recessive
Reversed 1
HGVS NC_000015.9:g.44943910G>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000034170.3,


[PMID 18079167] Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration.


[PMID 18663179] SPG11 compound mutations in spastic paraparesis with thin corpus callosum.