NOS3, nitric oxide synthase 3, 4846

N. diseases: 706; N. variants: 39
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: rs1799983
rs1799983
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature
Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs2070744
rs2070744
0.608 0.680 7 150992991 intron variant C/T snv 0.70
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature
Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs61722009
rs61722009
0.925 0.120 7 150997170 intron variant AGGGGTGAGGAAGTCTAGACCTGCTGC/-;AGGGGTGAGGAAGTCTAGACCTGCTGCAGGGGTGAGGAAGTCTAGACCTGCTGC delins
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature
Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2013 2013