|
rs1553546045
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs1558502635
|
|
TAAAA |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1560311010
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs764841861
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs900140738
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs121909658
|
|
|
0.030 |
GeneticVariation |
BEFREE |
No evidence of the inactivating mutation (C566T) in the follicle-stimulating hormone receptor gene in Brazilian women with premature ovarian failure.
|
9757892 |
1998 |
|
rs6166
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Exon 10 had two polymorphisms, G919A and G2039A, whose allelic frequencies were 46.7% and 56.6%, respectively, in women with POF.
|
9757892 |
1998 |
|
rs6165
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Exon 10 had two polymorphisms, G919A and G2039A, whose allelic frequencies were 46.7% and 56.6%, respectively, in women with POF.
|
9757892 |
1998 |
|
rs1195471902
|
|
|
0.010 |
GeneticVariation |
BEFREE |
One of the patients, a woman with Addison's disease, autoimmune thyroiditis, and premature menopause was heterozygous for a point mutation (G1021A, Val301Met) in the first plant homeodomain zinc finger domain of the autoimmune regulator (AIRE) gene.
|
10634424 |
2000 |
|
rs12720062
|
|
|
0.080 |
GeneticVariation |
BEFREE |
The analysis of pedigrees showing the inheritance of the 769G-->A mutation and POF strengthens the concept of the disease heterogeneity, since the POF phenotype was not always associated with the mutation.
|
12093833 |
2002 |
|
rs121909658
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Neither of the two FSHR mutations (566C-->T or1255G-->A) was identified in 40 other Finnish patients with premature ovarian failure.
|
11889179 |
2002 |
|
rs141502483
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The analysis of pedigrees showing the inheritance of the 769G-->A mutation and POF strengthens the concept of the disease heterogeneity, since the POF phenotype was not always associated with the mutation.
|
12093833 |
2002 |
|
rs12720062
|
|
|
0.080 |
GeneticVariation |
BEFREE |
G769A variation of INHalpha is rare in Korea women with POF.
|
15227735 |
2004 |
|
rs757975291
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We found the Ala257Thr missense mutation in INHalpha gene with high statistical significance in POF (nine out of 80, 11.2%) (Fisher's exact test, P = 0.0005), primary amenorrhoea (three out of 33, 9.1%) (Fisher's exact test, P = 0.014) and secondary amenorrhoea (two out of four, 50%) (Fisher's exact test, P = 0.001) with complete absence of this mutation in controls (none out of 100).
|
15205401 |
2004 |
|
rs12720062
|
|
|
0.080 |
GeneticVariation |
BEFREE |
Our results indicate that -16C>T and 769G>A variants in INHalpha gene may not be associated to POF disease.
|
16396934 |
2006 |
|
rs1376873864
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Our results indicate that -16C>T and 769G>A variants in INHalpha gene may not be associated to POF disease.
|
16396934 |
2006 |
|
rs2228363
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two variants were missense: (i) p.Iso184Val in a control and (ii) p.Pro775Ser in a POF case.
|
16613887 |
2006 |
|
rs782609889
|
|
|
0.010 |
GeneticVariation |
BEFREE |
However, three single nucleotide polymorphisms in the BMP15 gene, two in the 5' untranslated region (31T>G and 71C>G) and another in exon 1 (387G>A), were found to be common in both POF and control groups.
|
17027369 |
2006 |
|
rs12720062
|
|
|
0.080 |
GeneticVariation |
BEFREE |
This study supports the hypothesis that the INHA 769G>A variant may increase susceptibility to POF with impaired inhibin B bioactivity and provides insight into the complex aetiology of POF.
|
17933751 |
2007 |
|
rs1376873864
|
|
|
0.030 |
GeneticVariation |
BEFREE |
This study supports the hypothesis that the INHA 769G>A variant may increase susceptibility to POF with impaired inhibin B bioactivity and provides insight into the complex aetiology of POF.
|
17933751 |
2007 |
|
rs254286
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Genotype distribution of c.447C>T was significantly different in POF cases than controls (chi(2) = 5.93, P = 0.05).
|
16278619 |
2007 |
|
rs757975291
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Functional analysis of the human inhibin alpha subunit variant A257T and its potential role in premature ovarian failure.
|
17933751 |
2007 |
|
rs10521496
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We found that a SNP (rs10521496) covered by DIAPH2, known to cause premature ovarian failure (POF) in females, is associated with age-related macular degeneration.
|
17549761 |
2007 |
|
rs1205723048
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The c.646G>A mutation was present in two POF cases.
|
16278619 |
2007 |
|
rs199538689
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We sequenced the NOBOX gene in 96 white women with POF and discovered seven known single-nucleotide polymorphisms and four novel variations, two of which, p.Arg355His and p.Arg360Gln, cause missense mutations in the homeobox domain.
|
17701902 |
2007 |