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rs312262744

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs312262744(-;-)
Make rs312262744(-;T)
Make rs312262744(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position44621906
GeneSPG11
is asnp
is mentioned by
dbSNPrs312262744
ebirs312262744
HLIrs312262744
Exacrs312262744
Varsomers312262744
Maprs312262744
PheGenIrs312262744
hapmaprs312262744
1000 genomesrs312262744
hgdprs312262744
ensemblrs312262744
gopubmedrs312262744
geneviewrs312262744
scholarrs312262744
googlers312262744
pharmgkbrs312262744
gwascentralrs312262744
openSNPrs312262744
23andMers312262744
23andMe allrs312262744
SNP Nexus

SNPshotrs312262744
SNPdbers312262744
MSV3drs312262744
GWAS Ctlgrs312262744
Max Magnitude0
ClinVar
Risk rs312262744(T;T)
Alt rs312262744(T;T)
Reference rs312262744(;)
Significance Pathogenic
Disease Spastic paraplegia 11
Variation info
Gene SPG11
CLNDBN Spastic paraplegia 11, autosomal recessive
Reversed 1
HGVS NC_000015.9:g.44914104_44914105insA
CLNSRC OMIM Allelic Variant
CLNACC RCV000001172.4,


[PMID 18067136] Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia.