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rs1060502295

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1060502295(-;-)
Make rs1060502295(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position95478094
GenePTCH1
is asnp
is mentioned by
dbSNPrs1060502295
dbSNP (old)rs1060502295
ClinGenrs1060502295
ebirs1060502295
HLIrs1060502295
Exacrs1060502295
Gnomadrs1060502295
Varsomers1060502295
Maprs1060502295
PheGenIrs1060502295
Biobankrs1060502295
1000 genomesrs1060502295
hgdprs1060502295
ensemblrs1060502295
gopubmedrs1060502295
geneviewrs1060502295
scholarrs1060502295
googlers1060502295
pharmgkbrs1060502295
gwascentralrs1060502295
openSNPrs1060502295
23andMers1060502295
23andMe allrs1060502295
SNPshotrs1060502295
SNPdbers1060502295
MSV3drs1060502295
GWAS Ctlgrs1060502295
Max Magnitude0
ClinVar
Risk rs1060502295(-;-)
Alt rs1060502295(-;-)
Reference Rs1060502295(C;C)
Significance Pathogenic
Disease Gorlin syndrome
Variation info
Gene PTCH1
CLNDBN Gorlin syndrome
Reversed 1
HGVS NC_000009.11:g.98240376delG
CLNSRC
CLNACC RCV000475074.1,