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rs1060502274

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1060502274(C;T)
Make rs1060502274(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position95469119
GeneLOC100507346, PTCH1
is asnp
is mentioned by
dbSNPrs1060502274
dbSNP (old)rs1060502274
ClinGenrs1060502274
ebirs1060502274
HLIrs1060502274
Exacrs1060502274
Gnomadrs1060502274
Varsomers1060502274
Maprs1060502274
PheGenIrs1060502274
Biobankrs1060502274
1000 genomesrs1060502274
hgdprs1060502274
ensemblrs1060502274
gopubmedrs1060502274
geneviewrs1060502274
scholarrs1060502274
googlers1060502274
pharmgkbrs1060502274
gwascentralrs1060502274
openSNPrs1060502274
23andMers1060502274
23andMe allrs1060502274
SNPshotrs1060502274
SNPdbers1060502274
MSV3drs1060502274
GWAS Ctlgrs1060502274
Max Magnitude0
ClinVar
Risk rs1060502274(T;T)
Alt rs1060502274(T;T)
Reference Rs1060502274(C;C)
Significance Pathogenic
Disease Gorlin syndrome
Variation info
Gene LOC100507346 PTCH1
CLNDBN Gorlin syndrome
Reversed 1
HGVS NC_000009.11:g.98231401G>A
CLNSRC
CLNACC RCV000470850.1,