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rs1060501174

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060501174(G;T)
Make rs1060501174(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position44567593
GeneSPG11
is asnp
is mentioned by
dbSNPrs1060501174
dbSNP (classic)rs1060501174
ClinGenrs1060501174
ebirs1060501174
HLIrs1060501174
Exacrs1060501174
Gnomadrs1060501174
Varsomers1060501174
LitVarrs1060501174
Maprs1060501174
PheGenIrs1060501174
Biobankrs1060501174
1000 genomesrs1060501174
hgdprs1060501174
ensemblrs1060501174
geneviewrs1060501174
scholarrs1060501174
googlers1060501174
pharmgkbrs1060501174
gwascentralrs1060501174
openSNPrs1060501174
23andMers1060501174
SNPshotrs1060501174
SNPdbers1060501174
MSV3drs1060501174
GWAS Ctlgrs1060501174
Max Magnitude0
ClinVar
Risk rs1060501174(T;T)
Alt rs1060501174(T;T)
Reference Rs1060501174(G;G)
Significance Probable-Pathogenic
Disease Spastic paraplegia 11
Variation info
Gene SPG11
CLNDBN Spastic paraplegia 11, autosomal recessive
Reversed 1
HGVS NC_000015.9:g.44859791C>A
CLNSRC
CLNACC RCV000457536.1,