Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553387851
rs1553387851
LHCGR ; GTF2A1L ; STON1-GTF2A1L
A 0.700 GeneticVariation CLINVAR

dbSNP: rs121909661
rs121909661
FSHR
0.020 GeneticVariation BEFREE The FSHR c.1253T>G variant is next to a known pathogenic variant, rs12190966 (c.1255G>A, p.Ala419Thr), previously reported in a Finnish woman with primary amenorrhea. 25875778

2015
dbSNP: rs121909658
rs121909658
FSHR
0.020 GeneticVariation BEFREE The first mutation identified in the FSHR gene was a missense mutation (566C-->T, predicting Ala189Val transition) found in several Finnish patients with primary amenorrhea due to ovarian failure. 11889179

2002
dbSNP: rs121909661
rs121909661
FSHR
0.020 GeneticVariation BEFREE Here, we report a novel FSHR mutation, 1255G-->A, in a Finnish female with primary amenorrhea. 11889179

2002
dbSNP: rs121909658
rs121909658
FSHR
0.020 GeneticVariation BEFREE This inactivating Ala189Val transition in the extracellular receptor domain causes primary amenorrhea, arrest of follicular development and infertility in homozygous women. 9922109

1998
dbSNP: rs12190966
rs12190966
FBXO30 ; LOC100507557
0.010 GeneticVariation BEFREE The FSHR c.1253T>G variant is next to a known pathogenic variant, rs12190966 (c.1255G>A, p.Ala419Thr), previously reported in a Finnish woman with primary amenorrhea. 25875778

2015
dbSNP: rs1286391250
rs1286391250
NANOS3
0.010 GeneticVariation BEFREE A homozygous p.Glu120Lys mutation in NANOS3 was identified in two sisters with primary amenorrhea. 25054146

2014
dbSNP: rs954579305
rs954579305
RBMS3
0.010 GeneticVariation BEFREE A homozygous p.Glu120Lys mutation in NANOS3 was identified in two sisters with primary amenorrhea. 25054146

2014
dbSNP: rs1440086679
rs1440086679
BRD2
0.010 GeneticVariation BEFREE We have identified a novel homozygous mutation C(1723)T (Ala(575)Val) in one woman with primary amenorrhea. 20237833

2010
dbSNP: rs386833511
rs386833511
FSHR
0.010 GeneticVariation BEFREE We have identified a novel homozygous mutation C(1723)T (Ala(575)Val) in one woman with primary amenorrhea. 20237833

2010
dbSNP: rs121908653
rs121908653
WNT4 ; LOC105376845
0.010 GeneticVariation BEFREE We analyzed 28 DNA samples from adolescent girls with primary amenorrhea and failure of müllerian duct formation by direct sequencing and identified a new L12P mutation within exon 1 of the WNT4 gene. 18182450

2008
dbSNP: rs757975291
rs757975291
BRD2
0.010 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