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rs1060502268

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060502268(A;A)
Make rs1060502268(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position95476835
GenePTCH1
is asnp
is mentioned by
dbSNPrs1060502268
dbSNP (old)rs1060502268
ClinGenrs1060502268
ebirs1060502268
HLIrs1060502268
Exacrs1060502268
Gnomadrs1060502268
Varsomers1060502268
Maprs1060502268
PheGenIrs1060502268
Biobankrs1060502268
1000 genomesrs1060502268
hgdprs1060502268
ensemblrs1060502268
gopubmedrs1060502268
geneviewrs1060502268
scholarrs1060502268
googlers1060502268
pharmgkbrs1060502268
gwascentralrs1060502268
openSNPrs1060502268
23andMers1060502268
23andMe allrs1060502268
SNPshotrs1060502268
SNPdbers1060502268
MSV3drs1060502268
GWAS Ctlgrs1060502268
Max Magnitude0
ClinVar
Risk rs1060502268(A;A)
Alt rs1060502268(A;A)
Reference Rs1060502268(G;G)
Significance Probable-Pathogenic
Disease Gorlin syndrome Hereditary cancer-predisposing syndrome
Variation info
Gene PTCH1
CLNDBN Gorlin syndrome Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000009.11:g.98239117C>T
CLNSRC
CLNACC RCV000477105.1, RCV000492336.1,