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rs1060502292

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TC;TC) 0 common in clinvar
Make rs1060502292(-;-)
Make rs1060502292(-;TC)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position95468803
GeneLOC100507346, PTCH1
is asnp
is mentioned by
dbSNPrs1060502292
dbSNP (classic)rs1060502292
ClinGenrs1060502292
ebirs1060502292
HLIrs1060502292
Exacrs1060502292
Gnomadrs1060502292
Varsomers1060502292
LitVarrs1060502292
Maprs1060502292
PheGenIrs1060502292
Biobankrs1060502292
1000 genomesrs1060502292
hgdprs1060502292
ensemblrs1060502292
geneviewrs1060502292
scholarrs1060502292
googlers1060502292
pharmgkbrs1060502292
gwascentralrs1060502292
openSNPrs1060502292
23andMers1060502292
SNPshotrs1060502292
SNPdbers1060502292
MSV3drs1060502292
GWAS Ctlgrs1060502292
Max Magnitude0
ClinVar
Risk rs1060502292(-;-)
Alt rs1060502292(-;-)
Reference Rs1060502292(TC;TC)
Significance Pathogenic
Disease Gorlin syndrome Hereditary cancer-predisposing syndrome
Variation info
Gene LOC100507346 PTCH1
CLNDBN Gorlin syndrome Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000009.11:g.98231085_98231086delGA
CLNSRC
CLNACC RCV000473031.1, RCV000492757.1,