FSHR, follicle stimulating hormone receptor, 2492

N. diseases: 158; N. variants: 31
Disease: Primary physiologic amenorrhea ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909658
rs121909658
Entrez Id: 2492
Gene Symbol: FSHR
FSHR
CUI: C0232939
Disease:
Primary physiologic amenorrhea 		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: rs121909658
rs121909658
Entrez Id: 2492
Gene Symbol: FSHR
FSHR
CUI: C0232939
Disease:
Primary physiologic amenorrhea 		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