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rs1060502264

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060502264(-;-)
Make rs1060502264(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position95449930
GenePTCH1
is asnp
is mentioned by
dbSNPrs1060502264
dbSNP (classic)rs1060502264
ClinGenrs1060502264
ebirs1060502264
HLIrs1060502264
Exacrs1060502264
Gnomadrs1060502264
Varsomers1060502264
LitVarrs1060502264
Maprs1060502264
PheGenIrs1060502264
Biobankrs1060502264
1000 genomesrs1060502264
hgdprs1060502264
ensemblrs1060502264
geneviewrs1060502264
scholarrs1060502264
googlers1060502264
pharmgkbrs1060502264
gwascentralrs1060502264
openSNPrs1060502264
23andMers1060502264
SNPshotrs1060502264
SNPdbers1060502264
MSV3drs1060502264
GWAS Ctlgrs1060502264
Max Magnitude0
ClinVar
Risk rs1060502264(-;-)
Alt rs1060502264(-;-)
Reference Rs1060502264(G;G)
Significance Pathogenic
Disease Gorlin syndrome
Variation info
Gene PTCH1
CLNDBN Gorlin syndrome
Reversed 1
HGVS NC_000009.11:g.98212212delC
CLNSRC
CLNACC RCV000458278.1,