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rs1060502273

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(AT;AT) 0 common in clinvar
Make rs1060502273(-;-)
Make rs1060502273(-;AT)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position95453562
GenePTCH1
is asnp
is mentioned by
dbSNPrs1060502273
dbSNP (old)rs1060502273
ClinGenrs1060502273
ebirs1060502273
HLIrs1060502273
Exacrs1060502273
Gnomadrs1060502273
Varsomers1060502273
Maprs1060502273
PheGenIrs1060502273
Biobankrs1060502273
1000 genomesrs1060502273
hgdprs1060502273
ensemblrs1060502273
gopubmedrs1060502273
geneviewrs1060502273
scholarrs1060502273
googlers1060502273
pharmgkbrs1060502273
gwascentralrs1060502273
openSNPrs1060502273
23andMers1060502273
23andMe allrs1060502273
SNPshotrs1060502273
SNPdbers1060502273
MSV3drs1060502273
GWAS Ctlgrs1060502273
Max Magnitude0
ClinVar
Risk rs1060502273(-;-)
Alt rs1060502273(-;-)
Reference Rs1060502273(AT;AT)
Significance 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.98215844_98215845delAT
CLNSRC
CLNACC RCV000466769.1, RCV000492549.1,