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rs1060501168

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060501168(G;T)
Make rs1060501168(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position44575042
GeneSPG11
is asnp
is mentioned by
dbSNPrs1060501168
dbSNP (old)rs1060501168
ClinGenrs1060501168
ebirs1060501168
HLIrs1060501168
Exacrs1060501168
Gnomadrs1060501168
Varsomers1060501168
LitVarrs1060501168
Maprs1060501168
PheGenIrs1060501168
Biobankrs1060501168
1000 genomesrs1060501168
hgdprs1060501168
ensemblrs1060501168
gopubmedrs1060501168
geneviewrs1060501168
scholarrs1060501168
googlers1060501168
pharmgkbrs1060501168
gwascentralrs1060501168
openSNPrs1060501168
23andMers1060501168
23andMe allrs1060501168
SNPshotrs1060501168
SNPdbers1060501168
MSV3drs1060501168
GWAS Ctlgrs1060501168
Max Magnitude0
ClinVar
Risk rs1060501168(T;T)
Alt rs1060501168(T;T)
Reference Rs1060501168(G;G)
Significance Pathogenic
Disease Spastic paraplegia 11
Variation info
Gene SPG11
CLNDBN Spastic paraplegia 11, autosomal recessive
Reversed 1
HGVS NC_000015.9:g.44867240C>A
CLNSRC
CLNACC RCV000473393.1,