CAPN10, calpain 10, 11132

N. diseases: 58; N. variants: 9
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: rs3792267
rs3792267 		0.882 0.200 2 240591757 non coding transcript exon variant G/A snv 0.23
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.770 0.857 7 2006 2016
dbSNP: rs2975760
rs2975760 		1.000 0.080 2 240591746 non coding transcript exon variant T/C snv 0.12
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.730 1.000 3 2006 2014
dbSNP: rs5030952
rs5030952 		0.925 0.160 2 240603286 intron variant C/G;T snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.730 1.000 3 2010 2013
dbSNP: rs3842570
rs3842570 		0.925 0.160 2 240594824 intron variant -/CGGGAGGAGGGTGATGATTCTGTCCCAGGAGC delins
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.720 1.000 2 2010 2011
dbSNP: rs2975760
rs2975760 		1.000 0.080 2 240591746 non coding transcript exon variant T/C snv 0.12
CUI: C1854448
Disease: POLYCYSTIC OVARY SYNDROME, SUSCEPTIBILITY TO
POLYCYSTIC OVARY SYNDROME, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs3792267
rs3792267 		0.882 0.200 2 240591757 non coding transcript exon variant G/A snv 0.23
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.020 1.000 2 2014 2015
dbSNP: rs2953171
rs2953171 		1.000 0.040 2 240596636 non coding transcript exon variant C/T snv 0.19 0.16
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.010 1.000 1 2011 2011
dbSNP: rs2975760
rs2975760 		1.000 0.080 2 240591746 non coding transcript exon variant T/C snv 0.12
CUI: C0085207
Disease: Gestational Diabetes
Gestational Diabetes 		Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 < 0.001 1 2019 2019
dbSNP: rs3749166
rs3749166 		1.000 0.080 2 240598004 synonymous variant G/A snv 0.58 0.52
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs3792267
rs3792267 		0.882 0.200 2 240591757 non coding transcript exon variant G/A snv 0.23
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs3792267
rs3792267 		0.882 0.200 2 240591757 non coding transcript exon variant G/A snv 0.23
CUI: C0085207
Disease: Gestational Diabetes
Gestational Diabetes 		Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 < 0.001 1 2019 2019
dbSNP: rs3842570
rs3842570 		0.925 0.160 2 240594824 intron variant -/CGGGAGGAGGGTGATGATTCTGTCCCAGGAGC delins
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: rs41266971
rs41266971 		1.000 0.080 2 240591700 non coding transcript exon variant A/C;T snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs5030952
rs5030952 		0.925 0.160 2 240603286 intron variant C/G;T snv
CUI: C0085207
Disease: Gestational Diabetes
Gestational Diabetes 		Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs5030952
rs5030952 		0.925 0.160 2 240603286 intron variant C/G;T snv
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: rs7607759
rs7607759 		1.000 0.080 2 240596709 missense variant A/G;T snv 0.14 0.12
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2005 2005
dbSNP: rs769690789
rs769690789 		1.000 0.080 2 240593962 missense variant C/A snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2012 2012