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rs312262725

From SNPedia

Orientationminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs312262725(-;-)
Make rs312262725(-;A)
Make rs312262725(A;A)
ReferenceGRCh38.p2 38.2/147
Chromosome15
Position44651598
GeneSPG11
is asnp
is mentioned by
dbSNPrs312262725
ebirs312262725
HLIrs312262725
Exacrs312262725
Varsomers312262725
Maprs312262725
PheGenIrs312262725
hapmaprs312262725
1000 genomesrs312262725
hgdprs312262725
ensemblrs312262725
gopubmedrs312262725
geneviewrs312262725
scholarrs312262725
googlers312262725
pharmgkbrs312262725
gwascentralrs312262725
openSNPrs312262725
23andMers312262725
23andMe allrs312262725
SNP Nexus

SNPshotrs312262725
SNPdbers312262725
MSV3drs312262725
GWAS Ctlgrs312262725
Max Magnitude0
ClinVar
Risk rs312262725(A;A)
Alt rs312262725(A;A)
Reference rs312262725(;)
Significance Pathogenic
Disease Spastic paraplegia 11
Variation info
Gene SPG11
CLNDBN Spastic paraplegia 11, autosomal recessive
Reversed 1
HGVS NC_000015.9:g.44943797dupT
CLNSRC
CLNACC RCV000227208.1,