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rs312262728

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs312262728(C;T)
Make rs312262728(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position44648976
GeneSPG11
is asnp
is mentioned by
dbSNPrs312262728
ebirs312262728
HLIrs312262728
Exacrs312262728
Varsomers312262728
Maprs312262728
PheGenIrs312262728
hapmaprs312262728
1000 genomesrs312262728
hgdprs312262728
ensemblrs312262728
gopubmedrs312262728
geneviewrs312262728
scholarrs312262728
googlers312262728
pharmgkbrs312262728
gwascentralrs312262728
openSNPrs312262728
23andMers312262728
23andMe allrs312262728
SNP Nexus

SNPshotrs312262728
SNPdbers312262728
MSV3drs312262728
GWAS Ctlgrs312262728
Max Magnitude0
ClinVar
Risk rs312262728(T;T)
Alt rs312262728(T;T)
Reference rs312262728(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.44941174G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000034301.2,