LHCGR, luteinizing hormone/choriogonadotropin receptor, 3973
N. diseases: 151; N. variants: 50
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.040 | 2 | 48688604 | missense variant | A/G | snv |
|
Endocrine System Diseases | 0.840 | 1.000 | 15 | 1993 | 2002 | ||||||||
|
0.882 | 0.160 | 2 | 48688064 | missense variant | T/C;G | snv |
|
Endocrine System Diseases | 0.830 | 1.000 | 13 | 1993 | 2013 | ||||||||
|
0.925 | 0.200 | 2 | 48688067 | missense variant | G/A | snv |
|
Endocrine System Diseases | 0.810 | 1.000 | 12 | 1993 | 2006 | ||||||||
|
0.882 | 0.040 | 2 | 48688106 | missense variant | T/C | snv |
|
Endocrine System Diseases | 0.810 | 1.000 | 12 | 1993 | 2006 | ||||||||
|
1.000 | 0.040 | 2 | 48688084 | missense variant | C/T | snv |
|
Endocrine System Diseases | 0.800 | 1.000 | 11 | 1993 | 2001 | ||||||||
|
0.925 | 0.040 | 2 | 48688082 | missense variant | G/A;C | snv |
|
Endocrine System Diseases | 0.810 | 1.000 | 11 | 1993 | 2001 | ||||||||
|
1.000 | 0.040 | 2 | 48688679 | missense variant | G/A | snv |
|
Endocrine System Diseases | 0.800 | 1.000 | 11 | 1993 | 2001 | ||||||||
|
1.000 | 0.040 | 2 | 48688173 | missense variant | T/G | snv |
|
Endocrine System Diseases | 0.800 | 1.000 | 11 | 1993 | 2001 | ||||||||
|
0.776 | 0.280 | 2 | 48688065 | missense variant | C/A;G;T | snv | 1.2E-05 |
|
Endocrine System Diseases | 0.800 | 1.000 | 11 | 1993 | 2001 | |||||||
|
1.000 | 0.040 | 2 | 48688694 | missense variant | A/G | snv |
|
Endocrine System Diseases | 0.810 | 1.000 | 11 | 1993 | 2001 | ||||||||
|
0.882 | 0.040 | 2 | 48688094 | missense variant | G/A;T | snv |
|
Endocrine System Diseases | 0.810 | 1.000 | 11 | 1993 | 2001 | ||||||||
|
0.827 | 0.240 | 2 | 48688427 | missense variant | A/C | snv |
|
Endocrine System Diseases | 0.800 | 1.000 | 11 | 1993 | 2001 | ||||||||
|
0.790 | 0.200 | 2 | 48751020 | intron variant | A/G | snv | 0.15 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.900 | 0.818 | 11 | 2011 | 2019 | |||||||
|
0.851 | 0.240 | 2 | 48688020 | missense variant | C/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases | 0.810 | 1.000 | 10 | 1995 | 2009 | ||||||||
|
0.882 | 0.240 | 2 | 48687950 | missense variant | G/T | snv | 2.0E-05 | 4.9E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases | 0.700 | 1.000 | 10 | 1995 | 2009 | ||||||
|
0.925 | 0.160 | 2 | 48723689 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases | 0.700 | 1.000 | 10 | 1995 | 2009 | ||||||||
|
0.925 | 0.160 | 2 | 48688737 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases | 0.800 | 1.000 | 10 | 1995 | 2009 | ||||||||
|
0.851 | 0.160 | 2 | 48687923 | missense variant | A/T | snv | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases | 0.700 | 1.000 | 10 | 1995 | 2009 | |||||||
|
1.000 | 0.160 | 2 | 48688770 | missense variant | A/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases | 0.800 | 1.000 | 10 | 1995 | 2009 | ||||||||
|
1.000 | 0.160 | 2 | 48688170 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases | 0.800 | 1.000 | 10 | 1995 | 2009 | ||||||||
|
1.000 | 0.160 | 2 | 48688292 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases | 0.800 | 1.000 | 10 | 1995 | 2009 | ||||||||
|
1.000 | 0.160 | 2 | 48723650 | missense variant | C/A;G;T | snv | 1.2E-05; 4.0E-06; 2.8E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases | 0.800 | 1.000 | 10 | 1995 | 2009 | |||||||
|
0.851 | 0.160 | 2 | 48694236 | missense variant | T/C | snv | 0.61 | 0.51 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.050 | 1.000 | 5 | 2012 | 2019 | ||||||
|
0.882 | 0.160 | 2 | 48688064 | missense variant | T/C;G | snv |
|
Endocrine System Diseases | 0.030 | 1.000 | 3 | 1994 | 2011 | ||||||||
|
0.882 | 0.240 | 2 | 48687950 | missense variant | G/T | snv | 2.0E-05 | 4.9E-05 |
|
Respiratory Tract Diseases; Hemic and Lymphatic Diseases | 0.030 | 1.000 | 3 | 1996 | 2015 |