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rs1060502298

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1060502298(A;A)
Make rs1060502298(A;T)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position95458178
GenePTCH1
is asnp
is mentioned by
dbSNPrs1060502298
dbSNP (old)rs1060502298
ClinGenrs1060502298
ebirs1060502298
HLIrs1060502298
Exacrs1060502298
Gnomadrs1060502298
Varsomers1060502298
Maprs1060502298
PheGenIrs1060502298
Biobankrs1060502298
1000 genomesrs1060502298
hgdprs1060502298
ensemblrs1060502298
gopubmedrs1060502298
geneviewrs1060502298
scholarrs1060502298
googlers1060502298
pharmgkbrs1060502298
gwascentralrs1060502298
openSNPrs1060502298
23andMers1060502298
23andMe allrs1060502298
SNPshotrs1060502298
SNPdbers1060502298
MSV3drs1060502298
GWAS Ctlgrs1060502298
Max Magnitude0
ClinVar
Risk rs1060502298(A;A)
Alt rs1060502298(A;A)
Reference Rs1060502298(T;T)
Significance Pathogenic
Disease Gorlin syndrome
Variation info
Gene PTCH1
CLNDBN Gorlin syndrome
Reversed 1
HGVS NC_000009.11:g.98220460A>T
CLNSRC
CLNACC RCV000461102.1,