Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs11614178
rs11614178
0.827 0.120 12 68114342 intron variant G/A;T snv 0.26
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.700 1.000 1 2016 2016
dbSNP: rs12301088
rs12301088
0.882 0.080 12 68196168 intron variant C/T snv 0.37
CUI: C0042900
Disease: Vitiligo
Vitiligo
0.010 1.000 1 2016 2016
dbSNP: rs12301088
rs12301088
0.882 0.080 12 68196168 intron variant C/T snv 0.37
CUI: C0474824
Disease: Halo nevus
Halo nevus
0.010 1.000 1 2016 2016
dbSNP: rs12301088
rs12301088
0.882 0.080 12 68196168 intron variant C/T snv 0.37
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)
0.010 1.000 1 2016 2016
dbSNP: rs12318183
rs12318183
12 68110056 intron variant C/A snv 0.34
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases
0.700 1.000 1 2015 2015
dbSNP: rs1548654
rs1548654
0.925 0.040 12 68050417 intron variant A/G snv 3.1E-02
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis
0.700 1.000 1 2018 2018
dbSNP: rs1548654
rs1548654
0.925 0.040 12 68050417 intron variant A/G snv 3.1E-02
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
0.700 1.000 1 2018 2018
dbSNP: rs1558744
rs1558744
0.925 0.120 12 68110812 intron variant G/A snv 0.41
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.700 1.000 1 2011 2011
dbSNP: rs1861493
rs1861493
0.851 0.280 12 68157416 intron variant G/A snv 0.76
CUI: C0004096
Disease: Asthma
Asthma
0.010 1.000 1 2008 2008
dbSNP: rs1861493
rs1861493
0.851 0.280 12 68157416 intron variant G/A snv 0.76
CUI: C1842937
Disease: AURAL ATRESIA, CONGENITAL
AURAL ATRESIA, CONGENITAL
0.010 1.000 1 2016 2016
dbSNP: rs1861493
rs1861493
0.851 0.280 12 68157416 intron variant G/A snv 0.76
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary
0.010 1.000 1 2012 2012
dbSNP: rs1861493
rs1861493
0.851 0.280 12 68157416 intron variant G/A snv 0.76
CUI: C0026691
Disease: Mucocutaneous Lymph Node Syndrome
Mucocutaneous Lymph Node Syndrome
0.010 1.000 1 2016 2016
dbSNP: rs1861494
rs1861494
0.716 0.400 12 68157629 intron variant C/T snv 0.75
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases
0.010 1.000 1 2014 2014
dbSNP: rs1861494
rs1861494
0.716 0.400 12 68157629 intron variant C/T snv 0.75
CUI: C0022104
Disease: Irritable Bowel Syndrome
Irritable Bowel Syndrome
0.010 1.000 1 2014 2014
dbSNP: rs1861494
rs1861494
0.716 0.400 12 68157629 intron variant C/T snv 0.75
CUI: C0155877
Disease: Allergic asthma
Allergic asthma
0.010 1.000 1 2008 2008
dbSNP: rs1861494
rs1861494
0.716 0.400 12 68157629 intron variant C/T snv 0.75
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary
0.010 1.000 1 2012 2012
dbSNP: rs1861494
rs1861494
0.716 0.400 12 68157629 intron variant C/T snv 0.75
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple
0.010 1.000 1 2014 2014
dbSNP: rs1861494
rs1861494
0.716 0.400 12 68157629 intron variant C/T snv 0.75
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.010 1.000 1 2014 2014
dbSNP: rs1861494
rs1861494
0.716 0.400 12 68157629 intron variant C/T snv 0.75
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.010 1.000 1 2014 2014
dbSNP: rs1861494
rs1861494
0.716 0.400 12 68157629 intron variant C/T snv 0.75
CUI: C0042900
Disease: Vitiligo
Vitiligo
0.010 1.000 1 2017 2017
dbSNP: rs1861494
rs1861494
0.716 0.400 12 68157629 intron variant C/T snv 0.75
CUI: C0038443
Disease: Stress, Psychological
Stress, Psychological
0.010 1.000 1 2015 2015
dbSNP: rs1861494
rs1861494
0.716 0.400 12 68157629 intron variant C/T snv 0.75
CUI: C1827849
Disease: IgE-mediated allergic asthma
IgE-mediated allergic asthma
0.010 1.000 1 2008 2008
dbSNP: rs1861494
rs1861494
0.716 0.400 12 68157629 intron variant C/T snv 0.75
CUI: C0004096
Disease: Asthma
Asthma
0.010 1.000 1 2008 2008
dbSNP: rs1861494
rs1861494
0.716 0.400 12 68157629 intron variant C/T snv 0.75
CUI: C0017661
Disease: IGA Glomerulonephritis
IGA Glomerulonephritis
0.010 1.000 1 2017 2017
dbSNP: rs1861494
rs1861494
0.716 0.400 12 68157629 intron variant C/T snv 0.75
CUI: C1609538
Disease: Latent Tuberculosis
Latent Tuberculosis
0.010 1.000 1 2019 2019