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rs1060501176

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1060501176(A;A)
Make rs1060501176(A;T)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position44615411
GeneSPG11
is asnp
is mentioned by
dbSNPrs1060501176
dbSNP (classic)rs1060501176
ClinGenrs1060501176
ebirs1060501176
HLIrs1060501176
Exacrs1060501176
Gnomadrs1060501176
Varsomers1060501176
LitVarrs1060501176
Maprs1060501176
PheGenIrs1060501176
Biobankrs1060501176
1000 genomesrs1060501176
hgdprs1060501176
ensemblrs1060501176
geneviewrs1060501176
scholarrs1060501176
googlers1060501176
pharmgkbrs1060501176
gwascentralrs1060501176
openSNPrs1060501176
23andMers1060501176
SNPshotrs1060501176
SNPdbers1060501176
MSV3drs1060501176
GWAS Ctlgrs1060501176
Max Magnitude0
ClinVar
Risk rs1060501176(A;A)
Alt rs1060501176(A;A)
Reference Rs1060501176(T;T)
Significance Pathogenic
Disease Spastic paraplegia 11
Variation info
Gene SPG11
CLNDBN Spastic paraplegia 11, autosomal recessive
Reversed 1
HGVS NC_000015.9:g.44907609A>T
CLNSRC
CLNACC RCV000459100.1,