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: rs121434494
rs121434494
IL12RB1
1.000 19 18075812 missense variant G/A snv 2.8E-05
CUI: C4013949
Disease: IMMUNODEFICIENCY 30
IMMUNODEFICIENCY 30 		0.800 1.000 1 2001 2001
dbSNP: rs554063682
rs554063682
IL12RB1
1.000 19 18061120 splice donor variant A/C snv 1.1E-04 7.0E-05
CUI: C4013949
Disease: IMMUNODEFICIENCY 30
IMMUNODEFICIENCY 30 		0.700 1.000 4 1998 2016
dbSNP: rs2305742
rs2305742
IL12RB1
1.000 0.040 19 18080631 intron variant A/C;T snv
CUI: C0149745
Disease: Oral Ulcer
Oral Ulcer 		0.700 1.000 1 2019 2019
dbSNP: rs2305743
rs2305743
IL12RB1
1.000 0.040 19 18082381 intron variant G/A snv 0.19
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		0.700 1.000 1 2019 2019
dbSNP: rs121434492
rs121434492
IL12RB1
1.000 19 18083462 stop gained G/A snv 8.4E-05 1.0E-04
CUI: C4013949
Disease: IMMUNODEFICIENCY 30
IMMUNODEFICIENCY 30 		0.700 0
dbSNP: rs121434493
rs121434493
IL12RB1
1.000 19 18069609 stop gained G/A snv 4.0E-06
CUI: C4013949
Disease: IMMUNODEFICIENCY 30
IMMUNODEFICIENCY 30 		0.700 0
dbSNP: rs121434495
rs121434495
IL12RB1
1.000 19 18075857 missense variant A/G snv
CUI: C4013949
Disease: IMMUNODEFICIENCY 30
IMMUNODEFICIENCY 30 		0.700 0
dbSNP: rs1568515222
rs1568515222
IL12RB1
1.000 19 18080987 frameshift variant CCCG/- delins
CUI: C4013949
Disease: IMMUNODEFICIENCY 30
IMMUNODEFICIENCY 30 		0.700 0
dbSNP: rs564884307
rs564884307
IL12RB1
1.000 19 18076318 stop gained C/A;T snv 2.0E-05; 5.2E-05
CUI: C4013949
Disease: IMMUNODEFICIENCY 30
IMMUNODEFICIENCY 30 		0.700 0
dbSNP: rs587776680
rs587776680
IL12RB1
1.000 19 18072111 splice donor variant C/G;T snv
CUI: C4013949
Disease: IMMUNODEFICIENCY 30
IMMUNODEFICIENCY 30 		0.700 0
dbSNP: rs11575932
rs11575932
IL12RB1
1.000 0.040 19 18063894 missense variant G/A;C;T snv 4.0E-06
CUI: C0023348
Disease: Leprosy, Lepromatous
Leprosy, Lepromatous 		0.010 < 0.001 1 2003 2003
dbSNP: rs11575934
rs11575934
IL12RB1
0.882 0.040 19 18075808 missense variant T/C snv 0.28 0.25
CUI: C0024115
Disease: Lung diseases
Lung diseases 		0.010 1.000 1 2007 2007
dbSNP: rs11575934
rs11575934
IL12RB1
0.882 0.040 19 18075808 missense variant T/C snv 0.28 0.25
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		0.010 1.000 1 2007 2007
dbSNP: rs11575934
rs11575934
IL12RB1
0.882 0.040 19 18075808 missense variant T/C snv 0.28 0.25
CUI: C0030409
Disease: Paracoccidioidomycosis
Paracoccidioidomycosis 		0.010 1.000 1 2016 2016
dbSNP: rs11575934
rs11575934
IL12RB1
0.882 0.040 19 18075808 missense variant T/C snv 0.28 0.25
CUI: C0023348
Disease: Leprosy, Lepromatous
Leprosy, Lepromatous 		0.010 < 0.001 1 2003 2003
dbSNP: rs11575935
rs11575935
IL12RB1
0.925 0.040 19 18063921 missense variant C/T snv 1.1E-02 5.7E-03
CUI: C0023348
Disease: Leprosy, Lepromatous
Leprosy, Lepromatous 		0.010 < 0.001 1 2003 2003
dbSNP: rs11575935
rs11575935
IL12RB1
0.925 0.040 19 18063921 missense variant C/T snv 1.1E-02 5.7E-03
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		0.010 1.000 1 2007 2007
dbSNP: rs1310166928
rs1310166928
IL12RB1
1.000 0.040 19 18066582 synonymous variant A/G snv 7.0E-06
CUI: C0023348
Disease: Leprosy, Lepromatous
Leprosy, Lepromatous 		0.010 < 0.001 1 2003 2003
dbSNP: rs373643598
rs373643598
IL12RB1
1.000 19 18072286 stop gained G/A snv 1.2E-05
CUI: C4049006
Disease: Selective immunoglobulin A deficiency
Selective immunoglobulin A deficiency 		0.010 < 0.001 1 2011 2011
dbSNP: rs375947
rs375947
IL12RB1
1.000 0.040 19 18069641 missense variant A/G snv 0.29 0.29
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2014 2014
dbSNP: rs375947
rs375947
IL12RB1
1.000 0.040 19 18069641 missense variant A/G snv 0.29 0.29
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		0.010 1.000 1 2007 2007
dbSNP: rs401502
rs401502
IL12RB1
0.925 0.040 19 18069603 missense variant C/A;G;T snv 0.28; 3.2E-05
CUI: C0023348
Disease: Leprosy, Lepromatous
Leprosy, Lepromatous 		0.010 < 0.001 1 2003 2003
dbSNP: rs401502
rs401502
IL12RB1
0.925 0.040 19 18069603 missense variant C/A;G;T snv 0.28; 3.2E-05
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		0.010 1.000 1 2007 2007
dbSNP: rs436857
rs436857
IL12RB1
0.925 0.120 19 18086825 5 prime UTR variant G/A snv 0.16 0.17
CUI: C0013595
Disease: Eczema
Eczema 		0.010 1.000 1 2005 2005
dbSNP: rs436857
rs436857
IL12RB1
0.925 0.120 19 18086825 5 prime UTR variant G/A snv 0.16 0.17
CUI: C0011615
Disease: Dermatitis, Atopic
Dermatitis, Atopic 		0.010 1.000 1 2005 2005