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rs1060503494

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060503494(A;A)
Make rs1060503494(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position86264034
GeneREEP1
is asnp
is mentioned by
dbSNPrs1060503494
dbSNP (old)rs1060503494
ClinGenrs1060503494
ebirs1060503494
HLIrs1060503494
Exacrs1060503494
Gnomadrs1060503494
Varsomers1060503494
Maprs1060503494
PheGenIrs1060503494
Biobankrs1060503494
1000 genomesrs1060503494
hgdprs1060503494
ensemblrs1060503494
gopubmedrs1060503494
geneviewrs1060503494
scholarrs1060503494
googlers1060503494
pharmgkbrs1060503494
gwascentralrs1060503494
openSNPrs1060503494
23andMers1060503494
23andMe allrs1060503494
SNPshotrs1060503494
SNPdbers1060503494
MSV3drs1060503494
GWAS Ctlgrs1060503494
Max Magnitude0
ClinVar
Risk rs1060503494(A;A)
Alt rs1060503494(A;A)
Reference Rs1060503494(G;G)
Significance Pathogenic
Disease Spastic paraplegia 31
Variation info
Gene REEP1
CLNDBN Spastic paraplegia 31, autosomal dominant
Reversed 1
HGVS NC_000002.11:g.86491157C>T
CLNSRC
CLNACC RCV000457155.1,