Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1350968647
rs1350968647
MYH3
T 0.700 CausalMutation CLINVAR

dbSNP: rs1554823375
rs1554823375
WDR37
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1567552713
rs1567552713
MYH3
T 0.700 CausalMutation CLINVAR

dbSNP: rs1567558314
rs1567558314
MYH3
G 0.700 CausalMutation CLINVAR

dbSNP: rs1567564042
rs1567564042
MYH3
C 0.700 CausalMutation CLINVAR

dbSNP: rs374319146
rs374319146
TBCK
T 0.700 GeneticVariation CLINVAR

dbSNP: rs387906702
rs387906702
SMC1A
G 0.700 GeneticVariation CLINVAR

dbSNP: rs557849165
rs557849165
MYH3
T 0.700 CausalMutation CLINVAR

dbSNP: rs875989807
rs875989807
EP300 ; EP300-AS1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519320
rs1057519320
FBN1
0.010 GeneticVariation BEFREE We report a 29 week fetus with arthrogryposis multiplex congenita, multiple joint dislocations, scoliosis and dysmorphism who was detected to be double heterozygote for putatively pathogenic FBN1 (NM_000138.4:c.6004C > T; p.Pro2002Ser) and FBN2 (NM_001999.3:c.2945G > T; p.Cys982Phe) variants on exome sequencing. 29501612

2018
dbSNP: rs1057519321
rs1057519321
FBN2
0.010 GeneticVariation BEFREE We report a 29 week fetus with arthrogryposis multiplex congenita, multiple joint dislocations, scoliosis and dysmorphism who was detected to be double heterozygote for putatively pathogenic FBN1 (NM_000138.4:c.6004C > T; p.Pro2002Ser) and FBN2 (NM_001999.3:c.2945G > T; p.Cys982Phe) variants on exome sequencing. 29501612

2018
dbSNP: rs2236225
rs2236225
MTHFD1
0.010 GeneticVariation BEFREE A polymorphism in methylenetetrahydrofolate dehydrogenase 1 (MTHFD1), R653Q (MTHFD1 c.1958 G > A), has also been associated with increased birth defect risk, likely through reduced purine synthesis. 29659962

2018
dbSNP: rs869025322
rs869025322
PIGY ; PYURF
0.010 GeneticVariation BEFREE Two sisters with c.137T>C (p.Leu46Pro) PIGY variants had multi-system disease including dysmorphism, seizures, severe developmental delay, cataracts and early death. 26293662

2015
dbSNP: rs527236031
rs527236031
PIGT ; MIR6812
0.010 GeneticVariation BEFREE We performed whole exome sequencing in a patient with progressive encephalopathies and multiple dysmorphism with hypophosphatasia and identified novel compound heterozygous mutations, c.250G>T (p. Glu84*) and c.1342C>T (p. Arg488Trp), in PIGT encoding a subunit of the GPI transamidase complex. 24906948

2014
dbSNP: rs756632799
rs756632799
PIGT ; LOC107985405
0.010 GeneticVariation BEFREE We performed whole exome sequencing in a patient with progressive encephalopathies and multiple dysmorphism with hypophosphatasia and identified novel compound heterozygous mutations, c.250G>T (p. Glu84*) and c.1342C>T (p. Arg488Trp), in PIGT encoding a subunit of the GPI transamidase complex. 24906948

2014
dbSNP: rs1217691063
rs1217691063
MTHFR
0.010 GeneticVariation BEFREE The MTHFR polymTHFR polymorphisms, especially the 677C-->T mutation, may contribute to vascular and birth defect risks, while reducing the risk of certain malignancies, such as colon cancer. 14633777

2003