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: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
0.010 1.000 1 2012 2012
dbSNP: rs2430561
rs2430561
0.590 0.760 12 68158742 intron variant T/A snv 0.36
CUI: C0742343
Disease: Acute Chest Syndrome
Acute Chest Syndrome
0.010 1.000 1 2012 2012
dbSNP: rs3138557
rs3138557
0.851 0.080 12 68158711 intron variant CGAG/- delins
CUI: C1562585
Disease: Leprosy, Multibacillary
Leprosy, Multibacillary
0.010 1.000 1 2012 2012
dbSNP: rs2234688
rs2234688
1.000 0.040 12 68158742 intron variant -/G;TGAG;TGG;TGTGG;TGTGTGAG;TGTGTGG;TGTGTGTGG delins
CUI: C0025281
Disease: Meniere Disease
Meniere Disease
0.010 1.000 1 2013 2013
dbSNP: rs2430561
rs2430561
0.590 0.760 12 68158742 intron variant T/A snv 0.36
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
0.010 < 0.001 1 2013 2013
dbSNP: rs2430561
rs2430561
0.590 0.760 12 68158742 intron variant T/A snv 0.36
CUI: C1333064
Disease: Classical Hodgkin's Lymphoma
Classical Hodgkin's Lymphoma
0.010 1.000 1 2013 2013
dbSNP: rs2430561
rs2430561
0.590 0.760 12 68158742 intron variant T/A snv 0.36
CUI: C1304470
Disease: Generalized vitiligo
Generalized vitiligo
0.010 1.000 1 2013 2013
dbSNP: rs3138557
rs3138557
0.851 0.080 12 68158711 intron variant CGAG/- delins
CUI: C1304470
Disease: Generalized vitiligo
Generalized vitiligo
0.010 1.000 1 2013 2013
dbSNP: rs771694484
rs771694484
1.000 12 68157954 missense variant T/C snv 4.0E-05 7.0E-06
CUI: C4016741
Disease: IMMUNODEFICIENCY 32B
IMMUNODEFICIENCY 32B
0.010 1.000 1 2013 2013
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: 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: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.020 1.000 2 2014 2014
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: 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: rs2069705
rs2069705
0.695 0.440 12 68161231 intron variant G/A;C snv
CUI: C0024530
Disease: Malaria
Malaria
0.010 1.000 1 2014 2014
dbSNP: rs2430561
rs2430561
0.590 0.760 12 68158742 intron variant T/A snv 0.36
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.010 1.000 1 2014 2014
dbSNP: rs2430561
rs2430561
0.590 0.760 12 68158742 intron variant T/A snv 0.36
CUI: C0022660
Disease: Kidney Failure, Acute
Kidney Failure, Acute
0.010 1.000 1 2014 2014
dbSNP: rs2430561
rs2430561
0.590 0.760 12 68158742 intron variant T/A snv 0.36
CUI: C0026918
Disease: Mycobacterium Infections
Mycobacterium Infections
0.010 1.000 1 2014 2014
dbSNP: rs2430561
rs2430561
0.590 0.760 12 68158742 intron variant T/A snv 0.36
CUI: C0004096
Disease: Asthma
Asthma
0.010 < 0.001 1 2014 2014
dbSNP: rs2430561
rs2430561
0.590 0.760 12 68158742 intron variant T/A snv 0.36
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.010 1.000 1 2014 2014
dbSNP: rs2430561
rs2430561
0.590 0.760 12 68158742 intron variant T/A snv 0.36
CUI: C0034152
Disease: Henoch-Schoenlein Purpura
Henoch-Schoenlein Purpura
0.010 1.000 1 2014 2014
dbSNP: rs3138557
rs3138557
0.851 0.080 12 68158711 intron variant CGAG/- delins
Respiratory syncytial virus (RSV) infection in conditions classified elsewhere and of unspecified site
0.010 1.000 1 2014 2014