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rs1060503496

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1060503496(C;G)
Make rs1060503496(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position86282219
GeneREEP1
is asnp
is mentioned by
dbSNPrs1060503496
dbSNP (old)rs1060503496
ClinGenrs1060503496
ebirs1060503496
HLIrs1060503496
Exacrs1060503496
Gnomadrs1060503496
Varsomers1060503496
LitVarrs1060503496
Maprs1060503496
PheGenIrs1060503496
Biobankrs1060503496
1000 genomesrs1060503496
hgdprs1060503496
ensemblrs1060503496
gopubmedrs1060503496
geneviewrs1060503496
scholarrs1060503496
googlers1060503496
pharmgkbrs1060503496
gwascentralrs1060503496
openSNPrs1060503496
23andMers1060503496
23andMe allrs1060503496
SNPshotrs1060503496
SNPdbers1060503496
MSV3drs1060503496
GWAS Ctlgrs1060503496
Max Magnitude0
ClinVar
Risk rs1060503496(G;G)
Alt rs1060503496(G;G)
Reference Rs1060503496(C;C)
Significance Probable-Pathogenic
Disease Spastic paraplegia 31
Variation info
Gene REEP1
CLNDBN Spastic paraplegia 31, autosomal dominant
Reversed 1
HGVS NC_000002.11:g.86509342G>C
CLNSRC
CLNACC RCV000466973.1,