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rs863224524

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs863224524(-;-)
Make rs863224524(-;A)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position44622333
GeneSPG11
is asnp
is mentioned by
dbSNPrs863224524
dbSNP (classic)rs863224524
ClinGenrs863224524
ebirs863224524
HLIrs863224524
Exacrs863224524
Gnomadrs863224524
Varsomers863224524
LitVarrs863224524
Maprs863224524
PheGenIrs863224524
Biobankrs863224524
1000 genomesrs863224524
hgdprs863224524
ensemblrs863224524
geneviewrs863224524
scholarrs863224524
googlers863224524
pharmgkbrs863224524
gwascentralrs863224524
openSNPrs863224524
23andMers863224524
SNPshotrs863224524
SNPdbers863224524
MSV3drs863224524
GWAS Ctlgrs863224524
Max Magnitude0
ClinVar
Risk rs863224524(-;-)
Alt rs863224524(-;-)
Reference Rs863224524(A;A)
Significance Pathogenic
Disease Spastic paraplegia 11
Variation info
Gene SPG11
CLNDBN Spastic paraplegia 11, autosomal recessive
Reversed 1
HGVS NC_000015.9:g.44914531delT
CLNSRC
CLNACC RCV000196838.2,