rs118000887
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In vitro studies revealed that the rare LIN28B p.H199R variant identified in a girl with CPP does not affect the Lin28B function in the regulation of let-7 expression.
|
22964795 |
2012 |
rs192636495
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Although two of them were novel, those polymorphisms could not lead to amino acid changes. p.P110T was detected less frequently in CPP patients than in the controls (P = 0.022).
|
20631455 |
2010 |
rs201073751
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The p.H90D mutation was identified in the homozygous state in two unrelated girls with CPP.
|
20237166 |
2010 |
rs201617046
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The subgroup with p.G145S showed a significantly higher level of peak luteinizing hormone than the subgroup without p.G145S in girls with CPP.
|
23585209 |
2013 |
rs221634
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We found genotype frequencies in rs314276 and rs221634 were significantly correlated with girls with CPP; while the C allele frequency in rs314276 showed the dominant trait.
|
28525351 |
2017 |
rs314276
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our results demonstrate that the genotype of rs314276 in LIN28B is associated with girls with CPP, carrying dominant trait in the C allele.
|
28525351 |
2017 |
rs350132
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A missense change c.1091T>A, and an intron variant c.738+64G>T showed significantly higher allele frequencies in CPP patients than in controls (c.1091T>A: 30.7% vs. 22.2%, P = 0.031; c.738+64G>T: 45.6% vs. 35.9%, P = 0.023).
|
27914139 |
2017 |
rs4680
|
|
|
0.010 |
GeneticVariation |
BEFREE |
No association was found between CPP phenotypes (incidence, intensity, and duration) and different rs4680 genotypes.
|
23566343 |
2013 |
rs587777843
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The p.P74S mutation was identified in the heterozygous state in a boy who developed CPP at 1 yr of age.
|
20237166 |
2010 |
rs773378963
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The p.A63P variant was identified in a girl with CPP, and p.A449S in a girl with CDGP.
|
23329188 |
2012 |
rs1131691003
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs55832599
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs863223301
|
|
GCCATGGC |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1131691042
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs11540652
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs28934576
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs28934578
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|