CAPN5, calpain 5, 726

N. diseases: 46; N. variants: 10
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: rs397514601
rs397514601 		0.882 0.040 11 77115423 missense variant G/A;T snv 4.0E-06
CUI: C0242852
Disease: Proliferative vitreoretinopathy
Proliferative vitreoretinopathy 		Eye Diseases 0.800 1.000 1 2012 2012
dbSNP: rs397514602
rs397514602 		1.000 0.040 11 77115426 missense variant T/C snv
CUI: C0242852
Disease: Proliferative vitreoretinopathy
Proliferative vitreoretinopathy 		Eye Diseases 0.800 1.000 1 2012 2012
dbSNP: rs143494790
rs143494790 		1.000 0.080 11 77123791 missense variant G/A snv 4.9E-04 1.8E-03
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2013 2013
dbSNP: rs2233548
rs2233548 		11 77102945 missense variant G/A;T snv 2.5E-03; 1.2E-05
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs2233548
rs2233548 		11 77102945 missense variant G/A;T snv 2.5E-03; 1.2E-05
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs2233548
rs2233548 		11 77102945 missense variant G/A;T snv 2.5E-03; 1.2E-05
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs77301713
rs77301713 		1.000 0.120 11 77121400 intron variant G/A snv 2.0E-02
CUI: C0341106
Disease: Eosinophilic esophagitis
Eosinophilic esophagitis 		Digestive System Diseases; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 2014 2014
dbSNP: rs886041303
rs886041303 		1.000 0.040 11 77115560 missense variant C/T snv
CUI: C0242852
Disease: Proliferative vitreoretinopathy
Proliferative vitreoretinopathy 		Eye Diseases 0.700 0
dbSNP: rs886041303
rs886041303 		1.000 0.040 11 77115560 missense variant C/T snv
CUI: C4721549
Disease: Autosomal dominant neovascular inflammatory vitreoretinopathy
Autosomal dominant neovascular inflammatory vitreoretinopathy 		Pathological Conditions, Signs and Symptoms 0.020 1.000 2 2018 2019
dbSNP: rs2233546
rs2233546 		1.000 0.040 11 77102915 missense variant C/A;G;T snv 1.4E-04; 4.1E-06; 7.0E-02
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.010 1.000 1 2007 2007
dbSNP: rs2233549
rs2233549 		1.000 0.040 11 77103064 synonymous variant G/A snv 0.22 0.21
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.010 1.000 1 2007 2007
dbSNP: rs397514601
rs397514601 		0.882 0.040 11 77115423 missense variant G/A;T snv 4.0E-06
CUI: C1998028
Disease: Photoreceptor degeneration
Photoreceptor degeneration 		Eye Diseases 0.010 1.000 1 2015 2015
dbSNP: rs397514601
rs397514601 		0.882 0.040 11 77115423 missense variant G/A;T snv 4.0E-06
CUI: C0042164
Disease: Uveitis
Uveitis 		Eye Diseases 0.010 1.000 1 2015 2015
dbSNP: rs4945140
rs4945140 		1.000 0.040 11 77074406 intron variant G/A;C snv
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.010 1.000 1 2007 2007
dbSNP: rs7943320
rs7943320 		1.000 0.080 11 77096039 intron variant G/A snv 1.6E-02
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: rs886041303
rs886041303 		1.000 0.040 11 77115560 missense variant C/T snv
CUI: C1955603
Disease: Deaf-Blind Disorders
Deaf-Blind Disorders 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2019 2019