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: rs121918060
rs121918060 		0.925 0.160 1 45013187 missense variant C/T snv
CUI: C0162566
Disease: Porphyria Cutanea Tarda
Porphyria Cutanea Tarda 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 10 1986 2011
dbSNP: rs376921379
rs376921379 		1.000 0.160 1 45013316 missense variant G/T snv 1.2E-05 3.5E-05
CUI: C0162566
Disease: Porphyria Cutanea Tarda
Porphyria Cutanea Tarda 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 10 1989 2001
dbSNP: rs764268015
rs764268015 		1.000 0.160 1 45012960 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C0162566
Disease: Porphyria Cutanea Tarda
Porphyria Cutanea Tarda 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 10 1989 2001
dbSNP: rs769378741
rs769378741 		0.925 0.160 1 45013140 missense variant T/A;C snv 8.0E-06
CUI: C0162566
Disease: Porphyria Cutanea Tarda
Porphyria Cutanea Tarda 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 10 1986 2011
dbSNP: rs776907084
rs776907084 		0.925 0.160 1 45013317 missense variant C/G snv 4.0E-06 1.4E-05
CUI: C0162566
Disease: Porphyria Cutanea Tarda
Porphyria Cutanea Tarda 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 10 1986 2011
dbSNP: rs2236576
rs2236576 		1.000 0.040 1 45012003 5 prime UTR variant T/A snv 0.24
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs7528534
rs7528534 		1.000 0.040 1 45004458 intron variant T/C snv 0.90
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs7541207
rs7541207 		1.000 0.040 1 45008336 synonymous variant T/C snv 0.26 0.23
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs121918060
rs121918060 		0.925 0.160 1 45013187 missense variant C/T snv
CUI: C0162569
Disease: Hepatoerythropoietic Porphyria
Hepatoerythropoietic Porphyria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs397514764
rs397514764 		1.000 0.160 1 45012271 frameshift variant AGCGAATGGG/- del
CUI: C0162566
Disease: Porphyria Cutanea Tarda
Porphyria Cutanea Tarda 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1244973056
rs1244973056 		1.000 0.120 1 45013298 missense variant C/T snv 7.0E-06
CUI: C0162530
Disease: Porphyria, Erythropoietic
Porphyria, Erythropoietic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 1998 1998
dbSNP: rs1341379602
rs1341379602 		1.000 0.080 1 45013213 stop gained C/T snv 4.0E-06
CUI: C0019159
Disease: Hepatitis A
Hepatitis A 		Digestive System Diseases; Infections 0.010 1.000 1 2007 2007
dbSNP: rs769378741
rs769378741 		0.925 0.160 1 45013140 missense variant T/A;C snv 8.0E-06
CUI: C0162569
Disease: Hepatoerythropoietic Porphyria
Hepatoerythropoietic Porphyria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2004 2004
dbSNP: rs776907084
rs776907084 		0.925 0.160 1 45013317 missense variant C/G snv 4.0E-06 1.4E-05
CUI: C0162569
Disease: Hepatoerythropoietic Porphyria
Hepatoerythropoietic Porphyria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2000 2000