INSR, insulin receptor, 3643

N. diseases: 452; N. variants: 109
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: rs2059807
rs2059807
0.851 0.200 19 7166098 intron variant A/G;T snv
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.830 0.500 4 2011 2020
dbSNP: rs1181860747
rs1181860747
0.776 0.240 19 7122961 missense variant C/T snv
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.060 1.000 6 2001 2016
dbSNP: rs1799817
rs1799817
0.851 0.200 19 7125286 synonymous variant G/A snv 0.23 0.21
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.030 0.333 3 2011 2020
dbSNP: rs2252673
rs2252673
0.882 0.120 19 7150407 intron variant C/G snv 0.75
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.020 1.000 2 2011 2014
dbSNP: rs10500204
rs10500204
0.882 0.160 19 7182952 intron variant A/C snv 0.25
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 < 0.001 1 2011 2011
dbSNP: rs17253937
rs17253937
1.000 0.120 19 7184790 intron variant C/T snv 0.14
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs2059806
rs2059806
0.807 0.240 19 7166365 synonymous variant C/G;T snv 4.0E-06; 0.26
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 < 0.001 1 2015 2015
dbSNP: rs2245648
rs2245648
1.000 0.120 19 7163219 intron variant T/C snv 0.22 0.27
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
dbSNP: rs2245649
rs2245649
1.000 0.120 19 7163203 splice region variant T/C snv 9.8E-02 0.13
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
dbSNP: rs2245655
rs2245655
1.000 0.120 19 7163129 synonymous variant T/G snv 9.8E-02 0.13
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
dbSNP: rs2962
rs2962
1.000 0.120 19 7163054 missense variant G/A;T snv 6.4E-02 8.3E-02
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
dbSNP: rs2963
rs2963
0.851 0.240 19 7163143 synonymous variant G/A snv 9.8E-02 0.13
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
dbSNP: rs3786681
rs3786681
1.000 0.120 19 7168922 intron variant A/G snv 0.24
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs8107575
rs8107575
1.000 0.120 19 7165528 intron variant C/T snv 3.7E-02
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
dbSNP: rs8108622
rs8108622
1.000 0.120 19 7182742 intron variant T/A snv 0.23
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 < 0.001 1 2011 2011