Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057518907
rs1057518907
GNAS
T 0.700 CausalMutation CLINVAR

dbSNP: rs137854539
rs137854539
GNAS
T 0.700 GeneticVariation CLINVAR

dbSNP: rs587777011
rs587777011
FAM111A
A 0.700 CausalMutation CLINVAR

dbSNP: rs750295789
rs750295789
PTH
0.010 GeneticVariation BEFREE Heterozygotes for the c.68C>A mutation may have latent hypoparathyroidism and maintain calcium homeostasis except during prolonged hypocalcaemia. 29804071

2018
dbSNP: rs772749342
rs772749342
TGFBI
0.010 GeneticVariation BEFREE This identified a novel heterozygous germline Val340Met Gα11 mutation in both individuals, and this was also present in the other two relatives with hypocalcemia that were tested. 26818911

2016
dbSNP: rs140749796
rs140749796
GNA11
0.010 GeneticVariation BEFREE Missense GNA11 mutations (Arg181Gln and Phe341Leu) were detected in two unrelated patients with hypocalcemia; they were therefore identified as having autosomal dominant hypocalcemia type 2. 23802516

2013
dbSNP: rs587777020
rs587777020
GNA11
0.010 GeneticVariation BEFREE Missense GNA11 mutations (Arg181Gln and Phe341Leu) were detected in two unrelated patients with hypocalcemia; they were therefore identified as having autosomal dominant hypocalcemia type 2. 23802516

2013
dbSNP: rs751813138
rs751813138
CASR
0.010 GeneticVariation BEFREE Missense GNA11 mutations (Arg181Gln and Phe341Leu) were detected in two unrelated patients with hypocalcemia; they were therefore identified as having autosomal dominant hypocalcemia type 2. 23802516

2013
dbSNP: rs771600279
rs771600279
ACKR3
0.010 GeneticVariation BEFREE Missense GNA11 mutations (Arg181Gln and Phe341Leu) were detected in two unrelated patients with hypocalcemia; they were therefore identified as having autosomal dominant hypocalcemia type 2. 23802516

2013
dbSNP: rs199473648
rs199473648
KCNE2 ; LOC105372791
0.010 GeneticVariation BEFREE Data suggest a mechanism for reduced penetrance, inherited arrhythmia in which baseline I Kr current reduction by the T10M mutation is exacerbated by superimposition of arrhythmogenic substrates such as auditory stimuli, or electrolyte disturbances that reduce I Kr (hypokalaemia) or otherwise lower the ventricular threshold for fibrillation (hypomagnesaemia and hypocalcaemia). 18006462

2008
dbSNP: rs1385228926
rs1385228926
CASR
0.010 GeneticVariation BEFREE We describe a patient with sporadic severe hypercalciuric hypocalcaemia with undetectable or very low levels of serum parathyroid hormone, carrying a de novo heterozygous missense mutation ( F821L), localized in the sixth transmembrane domain of CaR. 14677060

2004
dbSNP: rs1042636
rs1042636
CASR
0.010 GeneticVariation BEFREE The Gly(990)Arg polymorphism was observed in 8 of 9 family members with or without hypocalcemia and in 36 of 50 controls. 12050233

2002
dbSNP: rs104893710
rs104893710
CASR
0.010 GeneticVariation BEFREE In other family members, the Ser(820)Phe mutation cosegregated with hypocalcemia. 12050233

2002