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
0.724 0.393 12 68158742 intron variant T/A snp 0.36; 3.2E-05; 3.2E-05; 3.2E-05
CUI: C0041296
Disease: Tuberculosis
Tuberculosis
0.030 1.000 3 2010 2014
dbSNP: rs2069705
rs2069705
0.821 0.214 12 68161231 intron variant G/A,C snp 0.58; 1.6E-04
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.020 0.500 2 2012 2012
dbSNP: rs2069705
rs2069705
0.821 0.214 12 68161231 intron variant G/A,C snp 0.58; 1.6E-04
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.020 1.000 2 2010 2017
dbSNP: rs2069705
rs2069705
0.821 0.214 12 68161231 intron variant G/A,C snp 0.58; 1.6E-04
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.020 0.500 2 2012 2012
dbSNP: rs2430561
rs2430561
0.724 0.393 12 68158742 intron variant T/A snp 0.36; 3.2E-05; 3.2E-05; 3.2E-05
CUI: C0023343
Disease: Leprosy
Leprosy
0.020 0.500 2 2012 2014
dbSNP: rs1861494
rs1861494
0.821 0.143 12 68157629 intron variant C/T snp 0.72
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.010 1.000 1 2015 2015
dbSNP: rs1861494
rs1861494
0.821 0.143 12 68157629 intron variant C/T snp 0.72
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases
0.010 1.000 1 2015 2015
dbSNP: rs1861494
rs1861494
0.821 0.143 12 68157629 intron variant C/T snp 0.72
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.010 1.000 1 2015 2015
dbSNP: rs1861494
rs1861494
0.821 0.143 12 68157629 intron variant C/T snp 0.72
CUI: C0022104
Disease: Irritable Bowel Syndrome
Irritable Bowel Syndrome
0.010 1.000 1 2015 2015
dbSNP: rs1861494
rs1861494
0.821 0.143 12 68157629 intron variant C/T snp 0.72
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple
0.010 1.000 1 2015 2015
dbSNP: rs1861494
rs1861494
0.821 0.143 12 68157629 intron variant C/T snp 0.72
CUI: C0038443
Disease: Stress, Psychological
Stress, Psychological
0.010 1.000 1 2016 2016
dbSNP: rs2069705
rs2069705
0.821 0.214 12 68161231 intron variant G/A,C snp 0.58; 1.6E-04
CUI: C0014060
Disease: Encephalitis, St. Louis
Encephalitis, St. Louis
0.010 1.000 1 2010 2010
dbSNP: rs2069705
rs2069705
0.821 0.214 12 68161231 intron variant G/A,C snp 0.58; 1.6E-04
CUI: C0024530
Disease: Malaria
Malaria
0.010 1.000 1 2015 2015
dbSNP: rs2069718
rs2069718
0.846 0.179 12 68156382 intron variant A/G snp 0.49
CUI: C0007766
Disease: Intracranial Aneurysm
Intracranial Aneurysm
0.010 1.000 1 2016 2016
dbSNP: rs2069718
rs2069718
0.846 0.179 12 68156382 intron variant A/G snp 0.49
CUI: C0014060
Disease: Encephalitis, St. Louis
Encephalitis, St. Louis
0.010 1.000 1 2010 2010
dbSNP: rs2069718
rs2069718
0.846 0.179 12 68156382 intron variant A/G snp 0.49
CUI: C1290398
Disease: Cerebral arterial aneurysm
Cerebral arterial aneurysm
0.010 1.000 1 2016 2016
dbSNP: rs2069718
rs2069718
0.846 0.179 12 68156382 intron variant A/G snp 0.49
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.010 1.000 1 2010 2010
dbSNP: rs2069727
rs2069727
0.923 0.143 12 68154443 intron variant T/A,C snp 0.35
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.010 1.000 1 2011 2011
dbSNP: rs2069727
rs2069727
0.923 0.143 12 68154443 intron variant T/A,C snp 0.35
Childhood Acute Lymphoblastic Leukemia
0.010 1.000 1 2011 2011
dbSNP: rs2069727
rs2069727
0.923 0.143 12 68154443 intron variant T/A,C snp 0.35
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.010 1.000 1 2011 2011
dbSNP: rs2430561
rs2430561
0.724 0.393 12 68158742 intron variant T/A snp 0.36; 3.2E-05; 3.2E-05; 3.2E-05
CUI: C3539909
Disease: Allergic disposition
Allergic disposition
0.010 < 0.001 1 2015 2015
dbSNP: rs2430561
rs2430561
0.724 0.393 12 68158742 intron variant T/A snp 0.36; 3.2E-05; 3.2E-05; 3.2E-05
CUI: C0007847
Disease: Malignant tumor of cervix
Malignant tumor of cervix
0.010 1.000 1 2015 2015
dbSNP: rs2430561
rs2430561
0.724 0.393 12 68158742 intron variant T/A snp 0.36; 3.2E-05; 3.2E-05; 3.2E-05
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.010 1.000 1 2013 2013
dbSNP: rs2430561
rs2430561
0.724 0.393 12 68158742 intron variant T/A snp 0.36; 3.2E-05; 3.2E-05; 3.2E-05
CUI: C0014060
Disease: Encephalitis, St. Louis
Encephalitis, St. Louis
0.010 1.000 1 2010 2010
dbSNP: rs2430561
rs2430561
0.724 0.393 12 68158742 intron variant T/A snp 0.36; 3.2E-05; 3.2E-05; 3.2E-05
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma
0.010 1.000 1 2015 2015