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rs1060502297

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1060502297(-;-)
Make rs1060502297(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position95479060
GenePTCH1
is asnp
is mentioned by
dbSNPrs1060502297
dbSNP (old)rs1060502297
ClinGenrs1060502297
ebirs1060502297
HLIrs1060502297
Exacrs1060502297
Gnomadrs1060502297
Varsomers1060502297
Maprs1060502297
PheGenIrs1060502297
Biobankrs1060502297
1000 genomesrs1060502297
hgdprs1060502297
ensemblrs1060502297
gopubmedrs1060502297
geneviewrs1060502297
scholarrs1060502297
googlers1060502297
pharmgkbrs1060502297
gwascentralrs1060502297
openSNPrs1060502297
23andMers1060502297
23andMe allrs1060502297
SNPshotrs1060502297
SNPdbers1060502297
MSV3drs1060502297
GWAS Ctlgrs1060502297
Max Magnitude0
ClinVar
Risk rs1060502297(-;-)
Alt rs1060502297(-;-)
Reference Rs1060502297(C;C)
Significance Pathogenic
Disease Gorlin syndrome
Variation info
Gene PTCH1
CLNDBN Gorlin syndrome
Reversed 1
HGVS NC_000009.11:g.98241342delG
CLNSRC
CLNACC RCV000473492.1,