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rs1060502280

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AT;AT) 0 common in clinvar
Make rs1060502280(-;-)
Make rs1060502280(-;AT)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position95485814
GenePTCH1
is asnp
is mentioned by
dbSNPrs1060502280
dbSNP (old)rs1060502280
ClinGenrs1060502280
ebirs1060502280
HLIrs1060502280
Exacrs1060502280
Gnomadrs1060502280
Varsomers1060502280
Maprs1060502280
PheGenIrs1060502280
Biobankrs1060502280
1000 genomesrs1060502280
hgdprs1060502280
ensemblrs1060502280
gopubmedrs1060502280
geneviewrs1060502280
scholarrs1060502280
googlers1060502280
pharmgkbrs1060502280
gwascentralrs1060502280
openSNPrs1060502280
23andMers1060502280
23andMe allrs1060502280
SNPshotrs1060502280
SNPdbers1060502280
MSV3drs1060502280
GWAS Ctlgrs1060502280
Max Magnitude0
ClinVar
Risk rs1060502280(-;-)
Alt rs1060502280(-;-)
Reference Rs1060502280(AT;AT)
Significance Pathogenic
Disease Gorlin syndrome
Variation info
Gene PTCH1
CLNDBN Gorlin syndrome
Reversed 1
HGVS NC_000009.11:g.98248096_98248097delAT
CLNSRC
CLNACC RCV000465139.1,