Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs4680
rs4680
COMT ; MIR4761
0.010 GeneticVariation BEFREE However, genotypic analyses demonstrated higher frequency of <i>COMT</i> rs4680 AA genotype carriers compared to G-allele carriers (<i>p</i> = 0.033) and higher frequency of <i>COMT</i> rs4818 CC genotype carriers than G-allele carriers (<i>p</i> = 0.014) in females with TRS. 30018555

2018
dbSNP: rs4818
rs4818
COMT ; MIR4761
0.010 GeneticVariation BEFREE However, genotypic analyses demonstrated higher frequency of <i>COMT</i> rs4680 AA genotype carriers compared to G-allele carriers (<i>p</i> = 0.033) and higher frequency of <i>COMT</i> rs4818 CC genotype carriers than G-allele carriers (<i>p</i> = 0.014) in females with TRS. 30018555

2018
dbSNP: rs371701248
rs371701248
NR5A1
0.010 GeneticVariation BEFREE RESULTS A novel heterozygous missense mutation (V355M) in SF1 was found in one boy with a micropenis and testicular regression syndrome. 17940071

2007