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rs1057518874

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057518874(G;T)
Make rs1057518874(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position44598738
GeneSPG11
is asnp
is mentioned by
dbSNPrs1057518874
dbSNP (old)rs1057518874
ClinGenrs1057518874
ebirs1057518874
HLIrs1057518874
Exacrs1057518874
Gnomadrs1057518874
Varsomers1057518874
Maprs1057518874
PheGenIrs1057518874
Biobankrs1057518874
1000 genomesrs1057518874
hgdprs1057518874
ensemblrs1057518874
gopubmedrs1057518874
geneviewrs1057518874
scholarrs1057518874
googlers1057518874
pharmgkbrs1057518874
gwascentralrs1057518874
openSNPrs1057518874
23andMers1057518874
23andMe allrs1057518874
SNPshotrs1057518874
SNPdbers1057518874
MSV3drs1057518874
GWAS Ctlgrs1057518874
Max Magnitude0
ClinVar
Risk rs1057518874(T;T)
Alt rs1057518874(T;T)
Reference Rs1057518874(G;G)
Significance Probable-Pathogenic
Disease Difficulty walking Gait disturbance Generalized hyperreflexia Spastic paraparesis
Variation info
Gene SPG11
CLNDBN Difficulty walking Gait disturbance Generalized hyperreflexia Spastic paraparesis
Reversed 1
HGVS NC_000015.9:g.44890936C>A
CLNSRC
CLNACC RCV000415188.1,