Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057518345
rs1057518345
ADNP
C 0.700 CausalMutation CLINVAR

dbSNP: rs1057518879
rs1057518879
PLOD1
A 0.700 CausalMutation CLINVAR

dbSNP: rs80338945
rs80338945
GJB2
G 0.700 CausalMutation CLINVAR

dbSNP: rs1316694869
rs1316694869
TCN2
0.010 GeneticVariation BEFREE A SNP in the homocysteine-related gene, betaine-homocysteine S-methyltransferase (BHMT), rs3733890 (p.R239Q), was significantly associated with omphalocele in both African-Americans and Asians. 22116453

2012
dbSNP: rs1801131
rs1801131
MTHFR
0.010 GeneticVariation BEFREE In the total study population, variants in the transcobalamin receptor gene (TCblR), rs2232775 (p.Q8R), and the MTHFR gene, rs1801131 (c.1298A>C), were significantly associated with omphalocele. 22116453

2012
dbSNP: rs2232775
rs2232775
NDUFA7 ; CD320
0.010 GeneticVariation BEFREE In the total study population, variants in the transcobalamin receptor gene (TCblR), rs2232775 (p.Q8R), and the MTHFR gene, rs1801131 (c.1298A>C), were significantly associated with omphalocele. 22116453

2012
dbSNP: rs3733890
rs3733890
BHMT ; DMGDH
0.010 GeneticVariation BEFREE A SNP in the homocysteine-related gene, betaine-homocysteine S-methyltransferase (BHMT), rs3733890 (p.R239Q), was significantly associated with omphalocele in both African-Americans and Asians. 22116453

2012
dbSNP: rs397507444
rs397507444
MTHFR
0.010 GeneticVariation BEFREE In the total study population, variants in the transcobalamin receptor gene (TCblR), rs2232775 (p.Q8R), and the MTHFR gene, rs1801131 (c.1298A>C), were significantly associated with omphalocele. 22116453

2012
dbSNP: rs781389750
rs781389750
TCN2
0.010 GeneticVariation BEFREE In the total study population, variants in the transcobalamin receptor gene (TCblR), rs2232775 (p.Q8R), and the MTHFR gene, rs1801131 (c.1298A>C), were significantly associated with omphalocele. 22116453

2012
dbSNP: rs1051266
rs1051266
SLC19A1
0.010 GeneticVariation BEFREE The MTHFD1 R653Q, SLC19A1 R27H, and TCN2 P259R polymorphisms showed no significant association with omphalocele. 15937947

2005
dbSNP: rs1217691063
rs1217691063
MTHFR
0.010 GeneticVariation BEFREE In this small study, the thermolabile variant of MTHFR, 677C-->T, was associated with an increased risk for omphalocele. 15937947

2005
dbSNP: rs1801198
rs1801198
TCN2
0.010 GeneticVariation BEFREE The MTHFD1 R653Q, SLC19A1 R27H, and TCN2 P259R polymorphisms showed no significant association with omphalocele. 15937947

2005
dbSNP: rs368087026
rs368087026
SLC19A1
0.010 GeneticVariation BEFREE In this small study, the thermolabile variant of MTHFR, 677C-->T, was associated with an increased risk for omphalocele. 15937947

2005