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rs2066836

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs2066836(C;T)
Make rs2066836(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position95476076
GenePTCH1
is asnp
is mentioned by
dbSNPrs2066836
ClinGenrs2066836
ebirs2066836
HLIrs2066836
Exacrs2066836
Varsomers2066836
Maprs2066836
PheGenIrs2066836
hapmaprs2066836
1000 genomesrs2066836
hgdprs2066836
ensemblrs2066836
gopubmedrs2066836
geneviewrs2066836
scholarrs2066836
googlers2066836
pharmgkbrs2066836
gwascentralrs2066836
openSNPrs2066836
23andMers2066836
23andMe allrs2066836
SNP Nexus

SNPshotrs2066836
SNPdbers2066836
MSV3drs2066836
GWAS Ctlgrs2066836
GMAF0.1093
Max Magnitude0
? (C;C) (C;T) (T;T) 28
[PMID 19937600OA-icon.png] Testing reported associations of genetic risk factors for oral clefts in a large Irish study population

[PMID 20346027] PTCH1 gene haplotype association with basal cell carcinoma after transplantation.


ClinVar
Risk rs2066836(T;T)
Alt rs2066836(T;T)
Reference Rs2066836(C;C)
Significance Probable-non-pathogenic
Disease not specified Gorlin syndrome Holoprosencephaly Hereditary cancer-predisposing syndrome
Variation info
Gene PTCH1
CLNDBN not specified Gorlin syndrome Holoprosencephaly Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000009.11:g.98238358G>A
CLNSRC
CLNACC RCV000250191.1, RCV000342546.1, RCV000376238.1, RCV000492508.1,