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rs1060502281

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1060502281(A;A)
Make rs1060502281(A;C)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position95481954
GenePTCH1
is asnp
is mentioned by
dbSNPrs1060502281
dbSNP (old)rs1060502281
ClinGenrs1060502281
ebirs1060502281
HLIrs1060502281
Exacrs1060502281
Gnomadrs1060502281
Varsomers1060502281
Maprs1060502281
PheGenIrs1060502281
Biobankrs1060502281
1000 genomesrs1060502281
hgdprs1060502281
ensemblrs1060502281
gopubmedrs1060502281
geneviewrs1060502281
scholarrs1060502281
googlers1060502281
pharmgkbrs1060502281
gwascentralrs1060502281
openSNPrs1060502281
23andMers1060502281
23andMe allrs1060502281
SNPshotrs1060502281
SNPdbers1060502281
MSV3drs1060502281
GWAS Ctlgrs1060502281
Max Magnitude0
ClinVar
Risk rs1060502281(A;A)
Alt rs1060502281(A;A)
Reference Rs1060502281(C;C)
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.98244236G>T
CLNSRC
CLNACC RCV000471602.1, RCV000492338.1,