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: rs121909661
rs121909661
Entrez Id: 2492
Gene Symbol: FSHR
FSHR
CUI: C0232939
Disease:
Primary physiologic amenorrhea 		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: rs121909661
rs121909661
Entrez Id: 2492
Gene Symbol: FSHR
FSHR
CUI: C0232939
Disease:
Primary physiologic amenorrhea 		0.020 GeneticVariation BEFREE Here, we report a novel FSHR mutation, 1255G-->A, in a Finnish female with primary amenorrhea. 11889179 2002