Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587778792
rs587778792
SHH
0.710 GeneticVariation BEFREE Here, we analyze seven reported missense mutations (G31R, D88V, Q100H, N115K, W117G, W117R, and E188Q) that alter the N-terminal signaling domain of Shh protein, and show that two of these mutations (Q100H and E188Q), which are questionably linked to HPE, produce no detectable effects on function. 16282375

2005
dbSNP: rs587778799
rs587778799
SHH
0.710 GeneticVariation BEFREE Here, we analyze seven reported missense mutations (G31R, D88V, Q100H, N115K, W117G, W117R, and E188Q) that alter the N-terminal signaling domain of Shh protein, and show that two of these mutations (Q100H and E188Q), which are questionably linked to HPE, produce no detectable effects on function. 16282375

2005
dbSNP: rs139565972
rs139565972
FGF8 ; LOC105378457
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1490604080
rs1490604080
FGF8 ; LOC105378457
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1554834889
rs1554834889
FGF8
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1554834892
rs1554834892
FGF8
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1557612048
rs1557612048
ARID1A
C 0.700 GeneticVariation CLINVAR

dbSNP: rs61730334
rs61730334
FGF8 ; LOC105378457
A 0.700 GeneticVariation CLINVAR

dbSNP: rs730882210
rs730882210
MATN4
G 0.700 GeneticVariation 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: 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: 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: 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: 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: 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: 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
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: rs587778792
rs587778792
SHH
G 0.710 CausalMutation CLINVAR

dbSNP: rs587778799
rs587778799
SHH
G 0.710 CausalMutation CLINVAR

dbSNP: rs104894040
rs104894040
SHH
G 0.700 CausalMutation CLINVAR

dbSNP: rs104894040
rs104894040
SHH
C 0.700 CausalMutation CLINVAR

dbSNP: rs104894042
rs104894042
SHH
T 0.700 CausalMutation CLINVAR