IRS1, insulin receptor substrate 1, 3667

N. diseases: 233; N. variants: 15
Disease: Polycystic Ovary Syndrome ×
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: rs1801278
rs1801278 		0.637 0.560 2 226795828 missense variant C/G;T snv 4.0E-06; 5.2E-02
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.100 0.833 18 2001 2017
dbSNP: rs1801276
rs1801276 		0.882 0.160 2 226797205 missense variant C/G snv 1.4E-02 1.3E-02
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 < 0.001 1 2006 2006
dbSNP: rs764352157
rs764352157 		0.925 0.160 2 226797914 synonymous variant G/A snv 4.0E-06 1.4E-05
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2010 2010