Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs9332967
rs9332967
SRD5A2
0.020 GeneticVariation BEFREE p.R246Q is a common SRD5A2 mutation in 5RD patients from the Indian subcontinent. 19492581

2009
dbSNP: rs9332967
rs9332967
SRD5A2
0.020 GeneticVariation BEFREE The patient with 5alpha-reductase deficiency with a homozygous p.R246Q mutation had a low basal dihydrotestosterone level. 18717241

2008
dbSNP: rs119481075
rs119481075
HSD17B3
0.010 GeneticVariation BEFREE In addition, both the high frequency of the 5-alpha steroid reductase deficiency (5αSRD) IVS1-2A>G mutation and the carrier frequency of the 17-beta hydroxysteroid dehydrogenase 3 (17β-HSD-3) p.R80Q mutation are good examples of a founder effect. p.R80Q can be considered a founder mutation, even though it has been identified in patients of Dutch, Brazilian, and Portuguese origin. 22857144

2012
dbSNP: rs149698797
rs149698797
HSD17B7
0.010 GeneticVariation BEFREE In addition, both the high frequency of the 5-alpha steroid reductase deficiency (5αSRD) IVS1-2A>G mutation and the carrier frequency of the 17-beta hydroxysteroid dehydrogenase 3 (17β-HSD-3) p.R80Q mutation are good examples of a founder effect. p.R80Q can be considered a founder mutation, even though it has been identified in patients of Dutch, Brazilian, and Portuguese origin. 22857144

2012
dbSNP: rs762681512
rs762681512
HSD17B13
0.010 GeneticVariation BEFREE In addition, both the high frequency of the 5-alpha steroid reductase deficiency (5αSRD) IVS1-2A>G mutation and the carrier frequency of the 17-beta hydroxysteroid dehydrogenase 3 (17β-HSD-3) p.R80Q mutation are good examples of a founder effect. p.R80Q can be considered a founder mutation, even though it has been identified in patients of Dutch, Brazilian, and Portuguese origin. 22857144

2012
dbSNP: rs121434245
rs121434245
SRD5A2
0.010 GeneticVariation BEFREE However, mutation analysis of the SRD5A2 gene revealed a homozygote point mutation (Leu55Gln) confirming the diagnosis of 5alpha-reductase deficiency. 20395661

2010
dbSNP: rs913377707
rs913377707
POMC
0.010 GeneticVariation BEFREE The patient with 5alpha-reductase deficiency with a homozygous p.R246Q mutation had a low basal dihydrotestosterone level. 18717241

2008
dbSNP: rs934429785
rs934429785
POMC
0.010 GeneticVariation BEFREE The patient with 5alpha-reductase deficiency with a homozygous p.R246Q mutation had a low basal dihydrotestosterone level. 18717241

2008
dbSNP: rs1057517828
rs1057517828
SRD5A2
0.010 GeneticVariation BEFREE Molecular analysis of 5alpha-reductase type 2 gene in eight unrelated egyptian children with suspected 5alpha-reductase deficiency: prevalence of the G34R mutation. 12699446

2003