CD6, CD6 molecule, 923

N. diseases: 216; N. variants: 8
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: rs17824933
rs17824933
1.000 0.080 11 60993140 intron variant C/A;G snv
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
Immune System Diseases; Nervous System Diseases 0.850 1.000 7 2009 2016
dbSNP: rs11230563
rs11230563
0.790 0.360 11 61008737 missense variant C/G;T snv 4.2E-06; 0.31
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases
Digestive System Diseases 0.800 1.000 2 2012 2015
dbSNP: rs11230563
rs11230563
0.790 0.360 11 61008737 missense variant C/G;T snv 4.2E-06; 0.31
CUI: C0033860
Disease: Psoriasis
Psoriasis
Skin and Connective Tissue Diseases 0.710 1.000 2 2016 2018
dbSNP: rs11230563
rs11230563
0.790 0.360 11 61008737 missense variant C/G;T snv 4.2E-06; 0.31
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
Digestive System Diseases 0.700 1.000 2 2015 2016
dbSNP: rs11230563
rs11230563
0.790 0.360 11 61008737 missense variant C/G;T snv 4.2E-06; 0.31
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
Digestive System Diseases 0.700 1.000 2 2015 2016
dbSNP: rs11230563
rs11230563
0.790 0.360 11 61008737 missense variant C/G;T snv 4.2E-06; 0.31
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
Musculoskeletal Diseases 0.700 1.000 1 2016 2016
dbSNP: rs11230563
rs11230563
0.790 0.360 11 61008737 missense variant C/G;T snv 4.2E-06; 0.31
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
Digestive System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs4939488
rs4939488
11 61019002 non coding transcript exon variant T/C;G snv
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement
0.700 1.000 1 2012 2012
dbSNP: rs11230563
rs11230563
0.790 0.360 11 61008737 missense variant C/G;T snv 4.2E-06; 0.31
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
Immune System Diseases; Nervous System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs11230563
rs11230563
0.790 0.360 11 61008737 missense variant C/G;T snv 4.2E-06; 0.31
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs112852289
rs112852289
1.000 0.080 11 61008833 frameshift variant -/T ins 5.1E-06; 5.1E-06
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
Immune System Diseases; Nervous System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs12288280
rs12288280
1.000 0.120 11 60988884 intron variant G/A;T snv
CUI: C0027873
Disease: Neuromyelitis Optica
Neuromyelitis Optica
Eye Diseases; Immune System Diseases; Nervous System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs12360861
rs12360861
1.000 0.040 11 61009601 missense variant G/A snv 0.13 0.14
CUI: C0033860
Disease: Psoriasis
Psoriasis
Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2074225
rs2074225
1.000 0.080 11 61008834 missense variant C/T snv 0.53 0.58
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
Immune System Diseases; Nervous System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs386754116
rs386754116
1.000 0.080 11 61008834 missense variant CG/TC mnv
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
Immune System Diseases; Nervous System Diseases 0.010 1.000 1 2013 2013