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rs1060502301

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060502301(A;A)
Make rs1060502301(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position95458029
GenePTCH1
is asnp
is mentioned by
dbSNPrs1060502301
dbSNP (old)rs1060502301
ClinGenrs1060502301
ebirs1060502301
HLIrs1060502301
Exacrs1060502301
Gnomadrs1060502301
Varsomers1060502301
Maprs1060502301
PheGenIrs1060502301
Biobankrs1060502301
1000 genomesrs1060502301
hgdprs1060502301
ensemblrs1060502301
gopubmedrs1060502301
geneviewrs1060502301
scholarrs1060502301
googlers1060502301
pharmgkbrs1060502301
gwascentralrs1060502301
openSNPrs1060502301
23andMers1060502301
23andMe allrs1060502301
SNPshotrs1060502301
SNPdbers1060502301
MSV3drs1060502301
GWAS Ctlgrs1060502301
Max Magnitude0
ClinVar
Risk rs1060502301(A;A)
Alt rs1060502301(A;A)
Reference Rs1060502301(G;G)
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.98220311C>T
CLNSRC
CLNACC RCV000477420.1, RCV000492750.1,