Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397515375
rs397515375
SHH
T 0.700 CausalMutation CLINVAR

dbSNP: rs397515376
rs397515376
SHH
G 0.700 CausalMutation CLINVAR

dbSNP: rs528376963
rs528376963
FGFR1
T 0.700 CausalMutation CLINVAR

dbSNP: rs587778786
rs587778786
SHH
G 0.700 CausalMutation CLINVAR

dbSNP: rs587778788
rs587778788
SHH
GCAGC 0.700 CausalMutation CLINVAR

dbSNP: rs587778789
rs587778789
SHH
G 0.700 CausalMutation CLINVAR

dbSNP: rs587778803
rs587778803
SHH
A 0.700 CausalMutation CLINVAR

dbSNP: rs587778805
rs587778805
SHH
T 0.700 CausalMutation CLINVAR

dbSNP: rs587778806
rs587778806
SHH
T 0.700 CausalMutation CLINVAR

dbSNP: rs61730334
rs61730334
FGF8 ; LOC105378457
A 0.700 GeneticVariation CLINVAR

dbSNP: rs730882210
rs730882210
MATN4
G 0.700 GeneticVariation CLINVAR

dbSNP: rs749567106
rs749567106
ZIC2
0.700 CausalMutation CLINVAR

dbSNP: rs876661329
rs876661329
FGF8 ; LOC105378457
A 0.700 GeneticVariation CLINVAR

dbSNP: rs876661330
rs876661330
FGF8 ; LOC105378457
A 0.700 GeneticVariation CLINVAR

dbSNP: rs876661331
rs876661331
FGF8 ; LOC105378457
T 0.700 GeneticVariation CLINVAR

dbSNP: rs876661335
rs876661335
FGFR1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs377240055
rs377240055
FGF8 ; LOC105378457
0.010 GeneticVariation BEFREE A homozygous p.R189H mutation was identified in a female patient of consanguineous parentage with semilobar HPE, diabetes insipidus, and TSH and ACTH insufficiency. 21832120

2011
dbSNP: rs121909067
rs121909067
TGIF1
0.010 GeneticVariation BEFREE Here we show that a holoprosencephaly mutation (P63R) interferes with the ability of TGIF to act as a corepressor for c-Jun and Smad2, suggesting that this holoprosencephaly mutation may lead to a general defect in the TGIF protein. 17158784

2007
dbSNP: rs370755364
rs370755364
PTCH1
0.010 GeneticVariation BEFREE A missense mutation c.686C>T was found in the gene SIX3 of one patient, which did not differ from the accepted 20% of known HPE gene mutations among all HPE cases. 17584896

2007
dbSNP: rs970137214
rs970137214
TGIF1
0.010 GeneticVariation BEFREE A missense mutation c.686C>T was found in the gene SIX3 of one patient, which did not differ from the accepted 20% of known HPE gene mutations among all HPE cases. 17584896

2007
dbSNP: rs199580307
rs199580307
TGIF1
0.010 GeneticVariation BEFREE A novel heterozygous missense mutation 377T > C (V126A) of TGIF gene in a family segregated with holoprosencephaly and moyamoya disease. 16475235

2006
dbSNP: rs1315861554
rs1315861554
TGIF1
0.010 GeneticVariation BEFREE Molecular diagnosis of a novel heterozygous 268C-->T (R90C) mutation in TGIF gene in a fetus with holoprosencephaly and premaxillary agenesis. 11810641

2002
dbSNP: rs771803303
rs771803303
TGM2
0.010 GeneticVariation BEFREE Molecular diagnosis of a novel heterozygous 268C-->T (R90C) mutation in TGIF gene in a fetus with holoprosencephaly and premaxillary agenesis. 11810641

2002