Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554317931
rs1554317931
CUI: C4025774
Disease: 1-3 toe syndactyly
1-3 toe syndactyly
A 0.700 CausalMutation CLINVAR

dbSNP: rs780336679
rs780336679
CUI: C4023728
Disease: 1-5 finger syndactyly
1-5 finger syndactyly
T 0.700 CausalMutation CLINVAR Novel splice mutation in LRP4 causes severe type of Cenani-Lenz syndactyly syndrome with oro-facial and skeletal symptoms. 28559208

2017

dbSNP: rs527656756
rs527656756
CUI: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs
CA 0.700 CausalMutation CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876

2017

dbSNP: rs1553154130
rs1553154130
CUI: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1135401744
rs1135401744
CUI: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs
T 0.700 CausalMutation CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876

2017

dbSNP: rs28934586
rs28934586
CUI: C3669121
Disease: 11-Beta-hydroxylase deficiency
11-Beta-hydroxylase deficiency
0.040 GeneticVariation BEFREE Steroid 11-beta hydroxylase deficiency caused by compound heterozygosity for a novel mutation in intron 7 (IVS 7 DS+4A to G) in one CYP11B1 allele and R448H in exon 8 in the other. 20024693

2010

dbSNP: rs28934586
rs28934586
CUI: C3669121
Disease: 11-Beta-hydroxylase deficiency
11-Beta-hydroxylase deficiency
0.040 GeneticVariation BEFREE A mutation in CYP11B1 (Arg-448----His) associated with steroid 11 beta-hydroxylase deficiency in Jews of Moroccan origin. 2022736

1991

dbSNP: rs28934586
rs28934586
CUI: C3669121
Disease: 11-Beta-hydroxylase deficiency
11-Beta-hydroxylase deficiency
0.040 GeneticVariation BEFREE Absence of steroid biosynthetic defects in heterozygote individuals for classic 11 beta-hydroxylase deficiency due to a R448H mutation in the CYP11B1 gene. 8530633

1995

dbSNP: rs28934586
rs28934586
CUI: C3669121
Disease: 11-Beta-hydroxylase deficiency
11-Beta-hydroxylase deficiency
0.040 GeneticVariation BEFREE We found the typical plasma steroid pattern of 11 beta-hydroxylase deficiency and identified the R448H mutation in the CYP11B1 gene in a boy presenting with pseudoprecocious puberty at age 2 yr. 9329393

1997

dbSNP: rs775479837
rs775479837
CUI: C3669121
Disease: 11-Beta-hydroxylase deficiency
11-Beta-hydroxylase deficiency
0.010 GeneticVariation BEFREE Compound heterozygous mutations (IVS7 + 1G > A and p.R141X) in the CYP11B1 gene were found to cause 11β-OHD. 27316665

2016

dbSNP: rs61758594
rs61758594
CUI: C3669121
Disease: 11-Beta-hydroxylase deficiency
11-Beta-hydroxylase deficiency
0.010 GeneticVariation BEFREE In summary, CAH due to steroid 11β-hydroxylase deficiency can be attributed to both the novel deletion mutation (g.9525_9526delCT, corresponding to p.L380V…R420X) and known missense mutation (g.5194G>C corresponding to p.D63H) in CYP11B1. 26806323

2016

dbSNP: rs568758408
rs568758408
CUI: C3669121
Disease: 11-Beta-hydroxylase deficiency
11-Beta-hydroxylase deficiency
0.010 GeneticVariation BEFREE Two mutations (p.(Ala306Val) and p.(Glu310Lys)) detected in patients with classical 11β-OHD showed a nearly complete loss of 11β-hydroxylase activity. 24022297

2014

dbSNP: rs5282
rs5282
CUI: C3669121
Disease: 11-Beta-hydroxylase deficiency
11-Beta-hydroxylase deficiency
0.010 GeneticVariation BEFREE In summary, CAH due to steroid 11β-hydroxylase deficiency can be attributed to both the novel deletion mutation (g.9525_9526delCT, corresponding to p.L380V…R420X) and known missense mutation (g.5194G>C corresponding to p.D63H) in CYP11B1. 26806323

2016

dbSNP: rs387907574
rs387907574
CUI: C3669121
Disease: 11-Beta-hydroxylase deficiency
11-Beta-hydroxylase deficiency
0.010 GeneticVariation BEFREE Two mutations (p.(Ala306Val) and p.(Glu310Lys)) detected in patients with classical 11β-OHD showed a nearly complete loss of 11β-hydroxylase activity. 24022297

2014

dbSNP: rs387907573
rs387907573
CUI: C3669121
Disease: 11-Beta-hydroxylase deficiency
11-Beta-hydroxylase deficiency
0.010 GeneticVariation BEFREE A homozygous L299P mutation in the CYP11B1 gene leads to complete virilization in 46,XX individuals with 11-beta-hydroxylase deficiency. 18663314

2008

dbSNP: rs387907572
rs387907572
CUI: C3669121
Disease: 11-Beta-hydroxylase deficiency
11-Beta-hydroxylase deficiency
0.010 GeneticVariation BEFREE Two mutations (p.(Ala306Val) and p.(Glu310Lys)) detected in patients with classical 11β-OHD showed a nearly complete loss of 11β-hydroxylase activity. 24022297

2014

dbSNP: rs149881706
rs149881706
CUI: C3669121
Disease: 11-Beta-hydroxylase deficiency
11-Beta-hydroxylase deficiency
0.010 GeneticVariation BEFREE The mutations p.(Arg143Trp) and p.(Arg332Gln) detected in patients with non-classical 11β-OHD showed a partial functional impairment with approximately 8% and 6% of WT activity, respectively. 24022297

2014

dbSNP: rs146124466
rs146124466
CUI: C3669121
Disease: 11-Beta-hydroxylase deficiency
11-Beta-hydroxylase deficiency
0.010 GeneticVariation BEFREE Only two mutations detected in 15 Tunisian patients with 11β-hydroxylase deficiency: the p.Q356X and the novel p.G379V. 20331679

2010

dbSNP: rs1447069098
rs1447069098
CUI: C3669121
Disease: 11-Beta-hydroxylase deficiency
11-Beta-hydroxylase deficiency
0.010 GeneticVariation BEFREE In this study, we identified three CYP11B1 (encoding Cytochrome P450 11B1) heterozygous mutations: c.1358G>C (p.R453Q), c.1229T>G (p.L410R) and c.1231G>T (p.G411C) in a Chinese CAH patient due to classic 11β-OHD. 28514642

2017

dbSNP: rs140336749
rs140336749
CUI: C3669121
Disease: 11-Beta-hydroxylase deficiency
11-Beta-hydroxylase deficiency
0.010 GeneticVariation BEFREE The mutations p.(Arg143Trp) and p.(Arg332Gln) detected in patients with non-classical 11β-OHD showed a partial functional impairment with approximately 8% and 6% of WT activity, respectively. 24022297

2014

dbSNP: rs1348178413
rs1348178413
CUI: C3669121
Disease: 11-Beta-hydroxylase deficiency
11-Beta-hydroxylase deficiency
0.010 GeneticVariation BEFREE In this study, we identified three CYP11B1 (encoding Cytochrome P450 11B1) heterozygous mutations: c.1358G>C (p.R453Q), c.1229T>G (p.L410R) and c.1231G>T (p.G411C) in a Chinese CAH patient due to classic 11β-OHD. 28514642

2017

dbSNP: rs1311444460
rs1311444460
CUI: C3669121
Disease: 11-Beta-hydroxylase deficiency
11-Beta-hydroxylase deficiency
0.010 GeneticVariation BEFREE A mutation in CYP11B1 (Arg-448----His) associated with steroid 11 beta-hydroxylase deficiency in Jews of Moroccan origin. 2022736

1991

dbSNP: rs1245981952
rs1245981952
CUI: C3669121
Disease: 11-Beta-hydroxylase deficiency
11-Beta-hydroxylase deficiency
0.010 GeneticVariation BEFREE Compound heterozygous mutations (IVS7 + 1G > A and p.R141X) in the CYP11B1 gene were found to cause 11β-OHD. 27316665

2016

dbSNP: rs1206627543
rs1206627543
CUI: C3669121
Disease: 11-Beta-hydroxylase deficiency
11-Beta-hydroxylase deficiency
0.010 GeneticVariation BEFREE All of the identified mutations resulted in the classical form with severe virilization, except for the p.Gly446Ser mutation, which caused a late-onset type of 11β-hydroxylase deficiency. 26956189

2017

dbSNP: rs9268559
rs9268559
CUI: C0202075
Disease: 17 Hydroxyprogesterone measurement
17 Hydroxyprogesterone measurement
G 0.700 GeneticVariation GWASCAT Genetic Association Study of Eight Steroid Hormones and Implications for Sexual Dimorphism of Coronary Artery Disease. 31169883

2019