rs121909658, FSHR

N. diseases: 8
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Gonadal Dysgenesis, 46,XX
CUI: C0949595
Disease: Gonadal Dysgenesis, 46,XX
11 0.776 0.200 2 48983125 missense variant G/A snv 6.9E-04 5.8E-04 0.700 0
Ovarian Failure, Premature
CUI: C0085215
Disease: Ovarian Failure, Premature
115 0.776 0.200 2 48983125 missense variant G/A snv 6.9E-04 5.8E-04 0.050 1.000 5 1998 2010
Premature Menopause
CUI: C0025322
Disease: Premature Menopause
90 0.776 0.200 2 48983125 missense variant G/A snv 6.9E-04 5.8E-04 0.030 1.000 3 1998 2010
Primary physiologic amenorrhea
CUI: C0232939
Disease: Primary physiologic amenorrhea
10 0.776 0.200 2 48983125 missense variant G/A snv 6.9E-04 5.8E-04 0.020 1.000 2 1998 2002
Gonadotropin-Resistant Ovary Syndrome
4 0.776 0.200 2 48983125 missense variant G/A snv 6.9E-04 5.8E-04 0.010 1.000 1 2002 2002
Ovarian dysgenesis
CUI: C0342510
Disease: Ovarian dysgenesis
2 0.776 0.200 2 48983125 missense variant G/A snv 6.9E-04 5.8E-04 0.010 1.000 1 1996 1996
Ovarian failure
CUI: C0747102
Disease: Ovarian failure
1 0.776 0.200 2 48983125 missense variant G/A snv 6.9E-04 5.8E-04 0.010 1.000 1 2002 2002
Ovarian Hyperstimulation Syndrome
CUI: C0085083
Disease: Ovarian Hyperstimulation Syndrome
24 0.776 0.200 2 48983125 missense variant G/A snv 6.9E-04 5.8E-04 0.010 1.000 1 2008 2008