|
rs121434250
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The unique features of SRD5A2 defects were p.R246Q (most prevalent) and p.G196S could be mutational hotspots, dual gene defects (p.A596T in AR and p.G196S in SRD5A2) in a patient with hypospadias and novel 8 nucleotide deletion (exon 1) found in a patient with perineal hypospadias.
|
30550360 |
2019 |
|
rs12171755
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two DGKK variants rs11091748 and rs12171755 were associated with increased risk of hypospadias in the Polish population.
|
29464676 |
2018 |
|
rs1217691063
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our study does not suggest a major role for folic acid supplements or the MTHFR C677T polymorphism in the etiology of hypospadias in general, but not using folic acid and/or carrying the MTHFR C677T polymorphism may be associated with middle and posterior hypospadias.
|
26879531 |
2016 |
|
rs121907900
|
|
|
0.010 |
GeneticVariation |
BEFREE |
WT1 gene mutations have been described in 46,XY patients with ambiguous genitalia or complete gonadal dysgenesis with or without Wilms' tumor, nephropathy, gonadoblastoma, and other defects, e.g., cryptorchidism or hypospadias. p.R462W is a hot spot mutation in exon 9 and is the most common mutation in patients with Denys-Drash syndrome.
|
29320783 |
2017 |
|
rs121918508
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The unique features of SRD5A2 defects were p.R246Q (most prevalent) and p.G196S could be mutational hotspots, dual gene defects (p.A596T in AR and p.G196S in SRD5A2) in a patient with hypospadias and novel 8 nucleotide deletion (exon 1) found in a patient with perineal hypospadias.
|
30550360 |
2019 |
|
rs1256062
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Four haplotype-tagging single nucleotide polymorphisms (rs2987983, rs1887994, rs1256040, and rs1256062), the (CA)n polymorphism, and two additional promoter single nucleotide polymorphisms (rs10483774 and rs1271572), mapping to a transcription factor binding region, were typed and analyzed in a Swedish cohort of 354 boys with nonsyndromic hypospadias and 380 healthy controls.
|
17579196 |
2007 |
|
rs1271572
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Four haplotype-tagging single nucleotide polymorphisms (rs2987983, rs1887994, rs1256040, and rs1256062), the (CA)n polymorphism, and two additional promoter single nucleotide polymorphisms (rs10483774 and rs1271572), mapping to a transcription factor binding region, were typed and analyzed in a Swedish cohort of 354 boys with nonsyndromic hypospadias and 380 healthy controls.
|
17579196 |
2007 |
|
rs1365908231
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A missense variant (L23M) was identified in a boy with anterior hypospadias.This amino acid is highly conserved.
|
18804813 |
2008 |
|
rs1377148066
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The unique features of SRD5A2 defects were p.R246Q (most prevalent) and p.G196S could be mutational hotspots, dual gene defects (p.A596T in AR and p.G196S in SRD5A2) in a patient with hypospadias and novel 8 nucleotide deletion (exon 1) found in a patient with perineal hypospadias.
|
30550360 |
2019 |
|
rs137852569
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The unique features of SRD5A2 defects were p.R246Q (most prevalent) and p.G196S could be mutational hotspots, dual gene defects (p.A596T in AR and p.G196S in SRD5A2) in a patient with hypospadias and novel 8 nucleotide deletion (exon 1) found in a patient with perineal hypospadias.
|
30550360 |
2019 |
|
rs1393252721
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Eight different SRD5A2 mutations were detected in 15 patients with posterior hypospadias (60%, 15/25), including six previously described mutations (p.Q6X, Q71X, p.L20P, p.G203S, p.R227Q, and p.R246Q) and two novel mutations (p.G196R and p.L73Pfs<sup>∗</sup>17).
|
28663096 |
2017 |
|
rs146450738
|
|
|
0.010 |
GeneticVariation |
BEFREE |
To investigate the possible associations between common polymorphisms in HSD17B3 as well as well-known V89L polymorphism in SRD5A2 and risk of hypospadias.
|
20059664 |
2010 |
|
rs17268974
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Based on odds ratio at 95% CI, Z Statistic and Significance Levels, STS gene-rs17268974 was associated with Penile-Hypospadias and 9-SNPs [seven-SNPs (rs5934740; rs5934842; rs5934913; rs6639811; rs3923341; rs17268974; rs5934937)] of STS gene; rs7562326-SRD5A2 and rs1877031-STARD3 were associated with penoscrotal-hypospadias.
|
30078147 |
2018 |
|
rs1877031
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Based on odds ratio at 95% CI, Z Statistic and Significance Levels, STS gene-rs17268974 was associated with Penile-Hypospadias and 9-SNPs [seven-SNPs (rs5934740; rs5934842; rs5934913; rs6639811; rs3923341; rs17268974; rs5934937)] of STS gene; rs7562326-SRD5A2 and rs1877031-STARD3 were associated with penoscrotal-hypospadias.
|
30078147 |
2018 |
|
rs1934190
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Six SNPs (rs1934179, rs4143304, rs9969978, rs1934188, rs7063116 and rs1934190) were significantly associated with mild/moderate hypospadias (ORs >1, P < 0.05), and rs1934179 was significantly associated with severe hypospadias (OR > 1, P < 0.05).
|
25327554 |
2015 |
|
rs2066479
|
|
|
0.010 |
GeneticVariation |
BEFREE |
These results suggest that the HSD17B3 G289S polymorphism may be a potential risk modifier for hypospadias.
|
20059664 |
2010 |
|
rs2069521
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In the ITA study group, two SNPs in AHR (rs3757824) and ARNT2 (rs1020397) were significantly associated with risk of CO. Interaction analysis of the positive SNPs using multifactor dimensionality reduction demonstrated that synergistic interaction between rs2472680, rs4919686 and rs5000770 had 62.81% prediction accuracy for CO (P=0.011) and that between rs2069521 and rs2278705 had 69.98% prediction accuracy for HS (P=0.001) in JPN population.
|
22648180 |
2012 |
|
rs2211122
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Five SNPs (rs2211122, rs4554617, rs7058226, rs7063116, and rs5915254) in DGKK were significantly associated with hypospadias (P < 0.05), with odds ratios (ORs) of 1.64-1.76.
|
28597849 |
2019 |
|
rs2278705
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In the ITA study group, two SNPs in AHR (rs3757824) and ARNT2 (rs1020397) were significantly associated with risk of CO. Interaction analysis of the positive SNPs using multifactor dimensionality reduction demonstrated that synergistic interaction between rs2472680, rs4919686 and rs5000770 had 62.81% prediction accuracy for CO (P=0.011) and that between rs2069521 and rs2278705 had 69.98% prediction accuracy for HS (P=0.001) in JPN population.
|
22648180 |
2012 |
|
rs2472680
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In the ITA study group, two SNPs in AHR (rs3757824) and ARNT2 (rs1020397) were significantly associated with risk of CO. Interaction analysis of the positive SNPs using multifactor dimensionality reduction demonstrated that synergistic interaction between rs2472680, rs4919686 and rs5000770 had 62.81% prediction accuracy for CO (P=0.011) and that between rs2069521 and rs2278705 had 69.98% prediction accuracy for HS (P=0.001) in JPN population.
|
22648180 |
2012 |
|
rs28939085
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The S232L mutation identified in three affected family members caused isolated, severe hypospadias in one member who was raised male; virilization occurred despite in vitro studies showing an inactive mutant enzyme.
|
17466011 |
2007 |
|
rs370173998
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The transactivation function of the variant MAMLD1 proteins was quantified by the luciferase method.TWO NEW MUTATIONS WERE IDENTIFIED: p.S143X (c.428C>A) in a patient with scrotal hypospadias with microphallus and p.P384L (c.1151C>T) in a patient with penile hypospadias with microphallus.
|
22479329 |
2012 |
|
rs371433324
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The unique features of SRD5A2 defects were p.R246Q (most prevalent) and p.G196S could be mutational hotspots, dual gene defects (p.A596T in AR and p.G196S in SRD5A2) in a patient with hypospadias and novel 8 nucleotide deletion (exon 1) found in a patient with perineal hypospadias.
|
30550360 |
2019 |
|
rs3757824
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In the ITA study group, two SNPs in AHR (rs3757824) and ARNT2 (rs1020397) were significantly associated with risk of CO. Interaction analysis of the positive SNPs using multifactor dimensionality reduction demonstrated that synergistic interaction between rs2472680, rs4919686 and rs5000770 had 62.81% prediction accuracy for CO (P=0.011) and that between rs2069521 and rs2278705 had 69.98% prediction accuracy for HS (P=0.001) in JPN population.
|
22648180 |
2012 |
|
rs377263651
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The unique features of SRD5A2 defects were p.R246Q (most prevalent) and p.G196S could be mutational hotspots, dual gene defects (p.A596T in AR and p.G196S in SRD5A2) in a patient with hypospadias and novel 8 nucleotide deletion (exon 1) found in a patient with perineal hypospadias.
|
30550360 |
2019 |