CAPN2, calpain 2, 824

N. diseases: 87; N. variants: 4
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: rs12038299
rs12038299 		1 223772690 non coding transcript exon variant G/A snv 0.21
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs373214284
rs373214284 		1 223712893 intron variant C/T snv 5.3E-05
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs25655
rs25655 		0.925 0.080 1 223712706 missense variant C/G snv 1.00 0.99
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2019 2019
dbSNP: rs25655
rs25655 		0.925 0.080 1 223712706 missense variant C/G snv 1.00 0.99
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2019 2019
dbSNP: rs760073870
rs760073870 		1 223752954 missense variant C/A;G;T snv 4.0E-06; 1.6E-05
CUI: C0949664
Disease: Tauopathies
Tauopathies 		Nervous System Diseases 0.010 1.000 1 2002 2002