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: rs1187883
rs1187883
14 55021516 intron variant T/A;C snv
CUI: C0202202
Disease: Protein measurement
Protein measurement
0.700 1.000 1 2012 2012
dbSNP: rs1201378
rs1201378
14 55026690 intron variant T/A;C snv 0.57
CUI: C0202202
Disease: Protein measurement
Protein measurement
0.700 1.000 1 2012 2012
dbSNP: rs1209087
rs1209087
14 55026502 intron variant C/G;T snv
CUI: C0202202
Disease: Protein measurement
Protein measurement
0.700 1.000 1 2012 2012
dbSNP: rs1478161644
rs1478161644
14 55008696 missense variant T/C snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
Neoplasms 0.010 < 0.001 1 2011 2011
dbSNP: rs17128120
rs17128120
14 55007880 intron variant C/G;T snv
CUI: C0202202
Disease: Protein measurement
Protein measurement
0.700 1.000 1 2012 2012
dbSNP: rs8019390
rs8019390
14 54942366 intron variant C/G;T snv
CUI: C0202202
Disease: Protein measurement
Protein measurement
0.700 1.000 1 2012 2012
dbSNP: rs774359492
rs774359492
0.807 0.200 14 55008684 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0949690
Disease: Spondylarthritis
Spondylarthritis
Musculoskeletal Diseases 0.010 1.000 1 2012 2012
dbSNP: rs774359492
rs774359492
0.807 0.200 14 55008684 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0035435
Disease: Rheumatism
Rheumatism
Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.010 1.000 1 2012 2012
dbSNP: rs774359492
rs774359492
0.807 0.200 14 55008684 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs774359492
rs774359492
0.807 0.200 14 55008684 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
Skin and Connective Tissue Diseases; Immune System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs774359492
rs774359492
0.807 0.200 14 55008684 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma
Skin and Connective Tissue Diseases 0.010 1.000 1 2012 2012
dbSNP: rs774359492
rs774359492
0.807 0.200 14 55008684 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C1527336
Disease: Sjogren's Syndrome
Sjogren's Syndrome
Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases; Stomatognathic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs774359492
rs774359492
0.807 0.200 14 55008684 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0949691
Disease: Spondylarthropathies
Spondylarthropathies
Musculoskeletal Diseases 0.010 1.000 1 2012 2012
dbSNP: rs11627963
rs11627963
14 54959829 intron variant C/G snv 0.14
CUI: C0202202
Disease: Protein measurement
Protein measurement
0.700 1.000 1 2012 2012
dbSNP: rs17253633
rs17253633
14 55003199 intron variant T/C snv 0.17
CUI: C0202202
Disease: Protein measurement
Protein measurement
0.700 1.000 1 2012 2012
dbSNP: rs4335711
rs4335711
14 55004145 intron variant G/C snv 0.28
CUI: C0202202
Disease: Protein measurement
Protein measurement
0.700 1.000 1 2012 2012
dbSNP: rs8009997
rs8009997
14 54955193 intron variant T/G snv 0.29
CUI: C0202202
Disease: Protein measurement
Protein measurement
0.700 1.000 1 2012 2012
dbSNP: rs17832269
rs17832269
14 54965373 intron variant C/T snv 0.29
CUI: C0202202
Disease: Protein measurement
Protein measurement
0.700 1.000 1 2012 2012
dbSNP: rs7151670
rs7151670
14 54986041 intron variant C/G snv 0.30
CUI: C0202202
Disease: Protein measurement
Protein measurement
0.700 1.000 1 2012 2012
dbSNP: rs8022049
rs8022049
14 54996151 intron variant T/C snv 0.30
CUI: C0202202
Disease: Protein measurement
Protein measurement
0.700 1.000 1 2012 2012
dbSNP: rs3783646
rs3783646
14 55005169 non coding transcript exon variant T/C snv 0.32
CUI: C0202202
Disease: Protein measurement
Protein measurement
0.700 1.000 1 2012 2012
dbSNP: rs943914
rs943914
14 54973350 intron variant C/A snv 0.34
CUI: C0202202
Disease: Protein measurement
Protein measurement
0.700 1.000 1 2012 2012
dbSNP: rs8020545
rs8020545
14 54942352 intron variant T/A snv 0.35
CUI: C0202202
Disease: Protein measurement
Protein measurement
0.700 1.000 1 2012 2012
dbSNP: rs7146285
rs7146285
14 54946151 intron variant T/C snv 0.43
CUI: C0202202
Disease: Protein measurement
Protein measurement
0.700 1.000 1 2012 2012
dbSNP: rs8012152
rs8012152
14 54958849 intron variant T/C snv 0.43
CUI: C0202202
Disease: Protein measurement
Protein measurement
0.700 1.000 1 2012 2012