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rs1060503431

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GTTT;GTTT) 0 common in clinvar
Make rs1060503431(-;-)
Make rs1060503431(-;GTTT)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position23334312
GeneSACS
is asnp
is mentioned by
dbSNPrs1060503431
dbSNP (old)rs1060503431
ClinGenrs1060503431
ebirs1060503431
HLIrs1060503431
Exacrs1060503431
Gnomadrs1060503431
Varsomers1060503431
Maprs1060503431
PheGenIrs1060503431
Biobankrs1060503431
1000 genomesrs1060503431
hgdprs1060503431
ensemblrs1060503431
gopubmedrs1060503431
geneviewrs1060503431
scholarrs1060503431
googlers1060503431
pharmgkbrs1060503431
gwascentralrs1060503431
openSNPrs1060503431
23andMers1060503431
23andMe allrs1060503431
SNPshotrs1060503431
SNPdbers1060503431
MSV3drs1060503431
GWAS Ctlgrs1060503431
Max Magnitude0
ClinVar
Risk rs1060503431(-;-)
Alt rs1060503431(-;-)
Reference Rs1060503431(GTTT;GTTT)
Significance Pathogenic
Disease Spastic paraplegia
Variation info
Gene SACS
CLNDBN Spastic paraplegia
Reversed 1
HGVS NC_000013.10:g.23908451_23908454delAAAC
CLNSRC
CLNACC RCV000470443.1,