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: rs2430561
rs2430561
0.590 0.760 12 68158742 intron variant T/A snv 0.36
CUI: C0041296
Disease: Tuberculosis
Tuberculosis
0.060 1.000 6 2010 2017
dbSNP: rs1861494
rs1861494
0.716 0.400 12 68157629 intron variant C/T snv 0.75
CUI: C0041296
Disease: Tuberculosis
Tuberculosis
0.030 1.000 3 2015 2019
dbSNP: rs11614178
rs11614178
0.827 0.120 12 68114342 intron variant G/A;T snv 0.26
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.700 1.000 2 2016 2017
dbSNP: rs1558744
rs1558744
0.925 0.120 12 68110812 intron variant G/A snv 0.41
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.800 1.000 2 2009 2010
dbSNP: rs2069705
rs2069705
0.695 0.440 12 68161231 intron variant G/A;C snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.020 0.500 2 2012 2012
dbSNP: rs2069705
rs2069705
0.695 0.440 12 68161231 intron variant G/A;C snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.020 0.500 2 2012 2012
dbSNP: rs2069705
rs2069705
0.695 0.440 12 68161231 intron variant G/A;C snv
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.020 1.000 2 2010 2016
dbSNP: rs2430561
rs2430561
0.590 0.760 12 68158742 intron variant T/A snv 0.36
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.020 1.000 2 2013 2017
dbSNP: rs2430561
rs2430561
0.590 0.760 12 68158742 intron variant T/A snv 0.36
CUI: C0023343
Disease: Leprosy
Leprosy
0.020 0.500 2 2012 2014
dbSNP: rs2430561
rs2430561
0.590 0.760 12 68158742 intron variant T/A snv 0.36
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.020 0.500 2 2012 2019
dbSNP: rs2430561
rs2430561
0.590 0.760 12 68158742 intron variant T/A snv 0.36
CUI: C0206139
Disease: Lichen Planus, Oral
Lichen Planus, Oral
0.020 0.500 2 2012 2018
dbSNP: rs2430561
rs2430561
0.590 0.760 12 68158742 intron variant T/A snv 0.36
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.020 1.000 2 2014 2014
dbSNP: rs2430561
rs2430561
0.590 0.760 12 68158742 intron variant T/A snv 0.36
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary
0.020 1.000 2 2016 2017
dbSNP: rs2430561
rs2430561
0.590 0.760 12 68158742 intron variant T/A snv 0.36
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.020 1.000 2 2014 2014
dbSNP: rs7134599
rs7134599
1.000 0.040 12 68106295 intron variant G/A snv 0.32
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases
0.810 1.000 2 2012 2020
dbSNP: rs11177053
rs11177053
1.000 0.040 12 68105457 intron variant T/C snv 0.41
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism
0.700 1.000 1 2019 2019
dbSNP: rs11614178
rs11614178
0.827 0.120 12 68114342 intron variant G/A;T snv 0.26
CUI: C0033860
Disease: Psoriasis
Psoriasis
0.700 1.000 1 2016 2016
dbSNP: rs11614178
rs11614178
0.827 0.120 12 68114342 intron variant G/A;T snv 0.26
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases
0.700 1.000 1 2017 2017
dbSNP: rs11614178
rs11614178
0.827 0.120 12 68114342 intron variant G/A;T snv 0.26
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.700 1.000 1 2016 2016
dbSNP: rs11614178
rs11614178
0.827 0.120 12 68114342 intron variant G/A;T snv 0.26
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
0.700 1.000 1 2016 2016
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