Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199476093
rs199476093
PTCH1
0.800 GeneticVariation UNIPROT PTCH mutations in four Brazilian patients with holoprosencephaly and in one with holoprosencephaly-like features and normal MRI. 17001668

2006
dbSNP: rs199476093
rs199476093
PTCH1
0.800 GeneticVariation UNIPROT GLI2 mutations in four Brazilian patients: how wide is the phenotypic spectrum? 17096318

2006
dbSNP: rs199476093
rs199476093
PTCH1
0.800 GeneticVariation UNIPROT Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly. 11941477

2002
dbSNP: rs199476093
rs199476093
PTCH1
C 0.800 CausalMutation CLINVAR

dbSNP: rs138911275
rs138911275
PTCH1
0.700 GeneticVariation UNIPROT PTCH mutations in four Brazilian patients with holoprosencephaly and in one with holoprosencephaly-like features and normal MRI. 17001668

2006
dbSNP: rs138911275
rs138911275
PTCH1
0.700 GeneticVariation UNIPROT GLI2 mutations in four Brazilian patients: how wide is the phenotypic spectrum? 17096318

2006
dbSNP: rs199476091
rs199476091
PTCH1
0.700 GeneticVariation UNIPROT PTCH mutations in four Brazilian patients with holoprosencephaly and in one with holoprosencephaly-like features and normal MRI. 17001668

2006
dbSNP: rs199476091
rs199476091
PTCH1
0.700 GeneticVariation UNIPROT GLI2 mutations in four Brazilian patients: how wide is the phenotypic spectrum? 17096318

2006
dbSNP: rs199476092
rs199476092
PTCH1 ; LOC100507346
0.700 GeneticVariation UNIPROT GLI2 mutations in four Brazilian patients: how wide is the phenotypic spectrum? 17096318

2006
dbSNP: rs199476092
rs199476092
PTCH1 ; LOC100507346
0.700 GeneticVariation UNIPROT PTCH mutations in four Brazilian patients with holoprosencephaly and in one with holoprosencephaly-like features and normal MRI. 17001668

2006
dbSNP: rs878853845
rs878853845
PTCH1
0.700 GeneticVariation UNIPROT PTCH mutations in four Brazilian patients with holoprosencephaly and in one with holoprosencephaly-like features and normal MRI. 17001668

2006
dbSNP: rs878853845
rs878853845
PTCH1
0.700 GeneticVariation UNIPROT GLI2 mutations in four Brazilian patients: how wide is the phenotypic spectrum? 17096318

2006
dbSNP: rs138911275
rs138911275
PTCH1
0.700 GeneticVariation UNIPROT Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly. 11941477

2002
dbSNP: rs199476091
rs199476091
PTCH1
0.700 GeneticVariation UNIPROT Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly. 11941477

2002
dbSNP: rs199476092
rs199476092
PTCH1 ; LOC100507346
0.700 GeneticVariation UNIPROT Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly. 11941477

2002
dbSNP: rs878853845
rs878853845
PTCH1
0.700 GeneticVariation UNIPROT Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly. 11941477

2002
dbSNP: rs115556836
rs115556836
PTCH1 ; LOC100507346
0.700 GeneticVariation UNIPROT

dbSNP: rs1554691658
rs1554691658
PTCH1
GGGTCCACAACATCT 0.700 GeneticVariation CLINVAR