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: rs399604
rs399604 		1.000 0.120 6 33007237 non coding transcript exon variant T/C snv 0.40 0.40
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.800 1.000 1 2011 2011
dbSNP: rs2581
rs2581 		1.000 0.120 6 33006624 3 prime UTR variant G/C;T snv
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 3 2007 2011
dbSNP: rs381218
rs381218 		1.000 0.120 6 33009643 upstream gene variant G/T snv 0.20
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 3 2007 2011
dbSNP: rs429916
rs429916 		1.000 0.120 6 33010810 upstream gene variant C/A snv 0.13
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 2 2007 2009
dbSNP: rs365066
rs365066 		1.000 0.120 6 33007480 synonymous variant C/T snv 0.40 0.40
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs378352
rs378352 		0.925 0.200 6 33007157 synonymous variant G/A;C snv 0.20
CUI: C0524909
Disease: Hepatitis B, Chronic
Hepatitis B, Chronic 		Digestive System Diseases; Infections 0.700 1.000 1 2015 2015
dbSNP: rs378352
rs378352 		0.925 0.200 6 33007157 synonymous variant G/A;C snv 0.20
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs399604
rs399604 		1.000 0.120 6 33007237 non coding transcript exon variant T/C snv 0.40 0.40
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs408036
rs408036 		1.000 0.120 6 33006491 3 prime UTR variant T/C snv 0.42
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs417812
rs417812 		1.000 0.120 6 33006304 3 prime UTR variant C/T snv 0.40
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs453779
rs453779 		1.000 0.120 6 33007604 non coding transcript exon variant A/G snv 0.54 0.57
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs6911639
rs6911639 		0.925 0.160 6 33010401 upstream gene variant T/C snv 0.22
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.700 1.000 1 2012 2012
dbSNP: rs6911639
rs6911639 		0.925 0.160 6 33010401 upstream gene variant T/C snv 0.22
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2009 2009
dbSNP: rs112121360
rs112121360 		1.000 0.080 6 33008091 missense variant C/G;T snv 8.1E-06 7.0E-06
CUI: C0025221
Disease: Meleda Disease
Meleda Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1332788424
rs1332788424 		1.000 0.040 6 33009477 synonymous variant C/A;T snv 4.3E-06
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		Neoplasms 0.010 < 0.001 1 2015 2015
dbSNP: rs1332788424
rs1332788424 		1.000 0.040 6 33009477 synonymous variant C/A;T snv 4.3E-06
CUI: C1704327
Disease: Bone Sarcoma
Bone Sarcoma 		Neoplasms; Musculoskeletal Diseases 0.010 < 0.001 1 2015 2015
dbSNP: rs2284191
rs2284191 		1.000 0.080 6 33008877 intron variant G/A snv 7.5E-02
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		Digestive System Diseases; Infections 0.010 1.000 1 2014 2014
dbSNP: rs79327197
rs79327197 		1.000 0.120 6 33010635 upstream gene variant A/G snv 1.6E-02
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs9276977
rs9276977 		0.925 0.120 6 33006064 3 prime UTR variant G/A snv 0.22
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs9276977
rs9276977 		0.925 0.120 6 33006064 3 prime UTR variant G/A snv 0.22
CUI: C3276549
Disease: OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY
OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY 		0.010 1.000 1 2010 2010