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rs1060501173

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1060501173(C;T)
Make rs1060501173(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position44584522
GeneSPG11
is asnp
is mentioned by
dbSNPrs1060501173
dbSNP (old)rs1060501173
ClinGenrs1060501173
ebirs1060501173
HLIrs1060501173
Exacrs1060501173
Gnomadrs1060501173
Varsomers1060501173
Maprs1060501173
PheGenIrs1060501173
Biobankrs1060501173
1000 genomesrs1060501173
hgdprs1060501173
ensemblrs1060501173
gopubmedrs1060501173
geneviewrs1060501173
scholarrs1060501173
googlers1060501173
pharmgkbrs1060501173
gwascentralrs1060501173
openSNPrs1060501173
23andMers1060501173
23andMe allrs1060501173
SNPshotrs1060501173
SNPdbers1060501173
MSV3drs1060501173
GWAS Ctlgrs1060501173
Max Magnitude0
ClinVar
Risk rs1060501173(T;T)
Alt rs1060501173(T;T)
Reference Rs1060501173(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.44876720G>A
CLNSRC
CLNACC RCV000462168.1,