FSHR, follicle stimulating hormone receptor, 2492

N. diseases: 158; N. variants: 31
Disease: Primary physiologic amenorrhea ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121909658
rs121909658 		0.776 0.200 2 48983125 missense variant G/A snv 6.9E-04 5.8E-04
CUI: C0232939
Disease: Primary physiologic amenorrhea
Primary physiologic amenorrhea 		Pathological Conditions, Signs and Symptoms 0.020 1.000 2 1998 2002
dbSNP: rs121909661
rs121909661 		0.925 0.200 2 48963566 missense variant C/T snv 4.0E-06
CUI: C0232939
Disease: Primary physiologic amenorrhea
Primary physiologic amenorrhea 		Pathological Conditions, Signs and Symptoms 0.020 1.000 2 2002 2015
dbSNP: rs386833511
rs386833511 		0.882 0.200 2 48963097 missense variant G/A snv
CUI: C0232939
Disease: Primary physiologic amenorrhea
Primary physiologic amenorrhea 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2010 2010