PRF1, perforin 1, 5551

N. diseases: 163; N. variants: 31
Disease: Diabetes Mellitus, Insulin-Dependent ×
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: rs1023934247
rs1023934247 		1.000 0.120 10 70598292 missense variant G/C;T snv
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs28933375
rs28933375 		0.882 0.160 10 70598966 missense variant T/C snv 5.0E-03 7.5E-03
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs754622171
rs754622171 		1.000 0.120 10 70598293 frameshift variant C/-;CC delins 8.0E-06; 4.0E-06; 8.0E-06; 4.0E-06
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2008 2008