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: rs1307379746
rs1307379746 		1.000 0.080 8 11556804 missense variant C/G;T snv 4.0E-06
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.700 0
dbSNP: rs141865425
rs141865425 		1.000 0.080 8 11555425 missense variant G/A snv 3.1E-03 3.0E-03
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.700 0
dbSNP: rs146505280
rs146505280 		1.000 0.080 8 11561347 missense variant C/T snv 8.6E-04 6.4E-04
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.700 0
dbSNP: rs55758736
rs55758736 		0.851 0.120 8 11548067 missense variant G/A snv 1.2E-02 1.5E-02
CUI: C3150618
Disease: Maturity-onset diabetes of the young, type 11
Maturity-onset diabetes of the young, type 11 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs73663163
rs73663163 		1.000 0.080 8 11550181 missense variant C/A;G;T snv 2.0E-03; 5.2E-04
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.700 0
dbSNP: rs758750492
rs758750492 		1.000 0.080 8 11561320 missense variant T/C snv 4.0E-06
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.700 0
dbSNP: rs886037621
rs886037621 		1.000 0.080 8 11564613 splice region variant G/T snv 1.4E-05 7.0E-06
CUI: C3150618
Disease: Maturity-onset diabetes of the young, type 11
Maturity-onset diabetes of the young, type 11 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs2255327
rs2255327 		8 11552483 intron variant C/T snv 1.2E-02
CUI: C2699541
Disease: Cytokine Measurement
Cytokine Measurement 		0.800 1.000 1 2012 2012
dbSNP: rs2618476
rs2618476 		0.925 0.160 8 11495032 intron variant T/C snv 0.26
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.800 1.000 1 2008 2008
dbSNP: rs10098664
rs10098664 		8 11559984 non coding transcript exon variant T/A;C snv
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs10100215
rs10100215 		1.000 0.120 8 11504763 intron variant G/T snv 0.26
CUI: C0026691
Disease: Mucocutaneous Lymph Node Syndrome
Mucocutaneous Lymph Node Syndrome 		Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 1.000 1 2012 2012
dbSNP: rs11250141
rs11250141 		1.000 0.120 8 11514632 intron variant G/A snv 0.48
CUI: C0026691
Disease: Mucocutaneous Lymph Node Syndrome
Mucocutaneous Lymph Node Syndrome 		Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 1.000 1 2012 2012
dbSNP: rs11990277
rs11990277 		1.000 0.120 8 11514576 intron variant T/C snv 0.23
CUI: C0026691
Disease: Mucocutaneous Lymph Node Syndrome
Mucocutaneous Lymph Node Syndrome 		Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 1.000 1 2012 2012
dbSNP: rs13277113
rs13277113 		0.695 0.520 8 11491677 intron variant G/A snv 0.25
CUI: C0026691
Disease: Mucocutaneous Lymph Node Syndrome
Mucocutaneous Lymph Node Syndrome 		Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 1.000 1 2012 2012
dbSNP: rs1382568
rs1382568 		0.925 0.160 8 11493711 intron variant A/C;G snv
CUI: C0026691
Disease: Mucocutaneous Lymph Node Syndrome
Mucocutaneous Lymph Node Syndrome 		Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 1.000 1 2012 2012
dbSNP: rs1478887
rs1478887 		1.000 0.120 8 11498471 intron variant C/T snv 0.64
CUI: C0026691
Disease: Mucocutaneous Lymph Node Syndrome
Mucocutaneous Lymph Node Syndrome 		Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 1.000 1 2012 2012
dbSNP: rs1478895
rs1478895 		1.000 0.120 8 11495826 intron variant G/C snv 0.83
CUI: C0026691
Disease: Mucocutaneous Lymph Node Syndrome
Mucocutaneous Lymph Node Syndrome 		Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 1.000 1 2012 2012
dbSNP: rs1478898
rs1478898 		8 11537570 intron variant G/A snv 0.41
CUI: C0008810
Disease: Circadian Rhythms
Circadian Rhythms 		0.700 1.000 1 2016 2016
dbSNP: rs1478900
rs1478900 		1.000 0.120 8 11490151 intron variant C/G;T snv
CUI: C0026691
Disease: Mucocutaneous Lymph Node Syndrome
Mucocutaneous Lymph Node Syndrome 		Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 1.000 1 2012 2012
dbSNP: rs1478901
rs1478901 		1.000 0.120 8 11490324 intron variant G/C snv 0.25
CUI: C0026691
Disease: Mucocutaneous Lymph Node Syndrome
Mucocutaneous Lymph Node Syndrome 		Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 1.000 1 2012 2012
dbSNP: rs1585729
rs1585729 		1.000 0.120 8 11502536 intron variant G/C snv 0.44
CUI: C0026691
Disease: Mucocutaneous Lymph Node Syndrome
Mucocutaneous Lymph Node Syndrome 		Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 1.000 1 2012 2012
dbSNP: rs1600249
rs1600249 		0.827 0.280 8 11502129 intron variant G/T snv 0.23
CUI: C0026691
Disease: Mucocutaneous Lymph Node Syndrome
Mucocutaneous Lymph Node Syndrome 		Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 1.000 1 2012 2012
dbSNP: rs2248325
rs2248325 		8 11539365 intron variant A/G snv 0.42
CUI: C0523829
Disease: Phosphatidylcholine measurement
Phosphatidylcholine measurement 		0.700 1.000 1 2019 2019
dbSNP: rs2250412
rs2250412 		1.000 0.120 8 11497061 intron variant G/A;C snv
CUI: C0026691
Disease: Mucocutaneous Lymph Node Syndrome
Mucocutaneous Lymph Node Syndrome 		Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 1.000 1 2012 2012
dbSNP: rs2250788
rs2250788 		1.000 0.120 8 11494547 5 prime UTR variant A/G;T snv
CUI: C0026691
Disease: Mucocutaneous Lymph Node Syndrome
Mucocutaneous Lymph Node Syndrome 		Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 1.000 1 2012 2012