PTCH1, patched 1, 5727

N. diseases: 604; N. variants: 194
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs746339472
rs746339472
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C4721806
Disease:
Carcinoma, Basal Cell
0.010 GeneticVariation BEFREE Other genotypes, such as the TT in SHH rs104894049 331 A/T and the GG in SMO rs41303402 385 G/A also statistically raised the risk of BCC, but these associations were weaker. 26590974 2016
dbSNP: rs937023804
rs937023804
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C4721806
Disease:
Carcinoma, Basal Cell
0.010 GeneticVariation BEFREE Other genotypes, such as the TT in SHH rs104894049 331 A/T and the GG in SMO rs41303402 385 G/A also statistically raised the risk of BCC, but these associations were weaker. 26590974 2016
dbSNP: rs1036980234
rs1036980234
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C4721806
Disease:
Carcinoma, Basal Cell
0.010 GeneticVariation BEFREE In this study, we assessed the role of melanocortin 1 receptor (MC1R) variants and of two patched (PTCH) polymorphisms (c.3944C>T (P1315L), insertion 18 bp IVS1-83) as risk factors for basal cell carcinoma (BCC) in the French population. 16645598 2006
dbSNP: rs357564
rs357564
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C4721806
Disease:
Carcinoma, Basal Cell
0.010 GeneticVariation BEFREE In this study, we assessed the role of melanocortin 1 receptor (MC1R) variants and of two patched (PTCH) polymorphisms (c.3944C>T (P1315L), insertion 18 bp IVS1-83) as risk factors for basal cell carcinoma (BCC) in the French population. 16645598 2006
dbSNP: rs758656848
rs758656848
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C4721806
Disease:
Carcinoma, Basal Cell
0.010 GeneticVariation BEFREE Interestingly, in addition to the predictable red hair color (RHC) alleles, two non-RHC alleles (V60L and V92M) were also closely associated with BCC risk (OR 3.21 [1.91-5.38] and 2.87 [1.5-5.48], respectively), which differs from the situation in the Celtic population. 16645598 2006
dbSNP: rs760253622
rs760253622
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C4721806
Disease:
Carcinoma, Basal Cell
0.010 GeneticVariation BEFREE Interestingly, in addition to the predictable red hair color (RHC) alleles, two non-RHC alleles (V60L and V92M) were also closely associated with BCC risk (OR 3.21 [1.91-5.38] and 2.87 [1.5-5.48], respectively), which differs from the situation in the Celtic population. 16645598 2006