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rs1060502230

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CC;CC) 0 common in clinvar
Make rs1060502230(CC;GGT)
Make rs1060502230(GGT;GGT)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position32064221
GeneSPAST
is asnp
is mentioned by
dbSNPrs1060502230
dbSNP (old)rs1060502230
ClinGenrs1060502230
ebirs1060502230
HLIrs1060502230
Exacrs1060502230
Gnomadrs1060502230
Varsomers1060502230
Maprs1060502230
PheGenIrs1060502230
Biobankrs1060502230
1000 genomesrs1060502230
hgdprs1060502230
ensemblrs1060502230
gopubmedrs1060502230
geneviewrs1060502230
scholarrs1060502230
googlers1060502230
pharmgkbrs1060502230
gwascentralrs1060502230
openSNPrs1060502230
23andMers1060502230
23andMe allrs1060502230
SNPshotrs1060502230
SNPdbers1060502230
MSV3drs1060502230
GWAS Ctlgrs1060502230
Max Magnitude0
ClinVar
Risk rs1060502230(GGT;GGT)
Alt rs1060502230(GGT;GGT)
Reference Rs1060502230(CC;CC)
Significance Pathogenic
Disease Spastic paraplegia 4
Variation info
Gene SPAST
CLNDBN Spastic paraplegia 4, autosomal dominant
Reversed 0
HGVS NC_000002.11:g.32289290_32289291delCCinsGGT
CLNSRC
CLNACC RCV000460629.1,