Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1188383936
rs1188383936
F2
0.010 GeneticVariation BEFREE antiphospholipid antibodies syndrome associated with hyperhomocysteinemia related to MTHFR Gene C677T and A1298C heterozygous mutations in a young man with idiopathic hypoparathyroidism (DiGeorge syndrome). 16595601

2006
dbSNP: rs1217691063
rs1217691063
MTHFR
0.010 GeneticVariation BEFREE antiphospholipid antibodies syndrome associated with hyperhomocysteinemia related to MTHFR Gene C677T and A1298C heterozygous mutations in a young man with idiopathic hypoparathyroidism (DiGeorge syndrome). 16595601

2006
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
0.010 GeneticVariation BEFREE Protein tyrosine phosphatase non-receptor type 22 (PTPN22) gene R620W variant and sporadic idiopathic hypoparathyroidism in Asian Indians. 16893384

2006
dbSNP: rs397507444
rs397507444
MTHFR
0.010 GeneticVariation BEFREE antiphospholipid antibodies syndrome associated with hyperhomocysteinemia related to MTHFR Gene C677T and A1298C heterozygous mutations in a young man with idiopathic hypoparathyroidism (DiGeorge syndrome). 16595601

2006
dbSNP: rs179363875
rs179363875
AIRE
0.010 GeneticVariation BEFREE The R15C mutation was not detected in patients with idiopathic hypoparathyroidism (N= 10), idiopathic Addison's disease (N = 3), and normal subjects (N = 55). 12625412

2002