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: rs104893973
rs104893973
IFNGR1
0.925 6 137206249 missense variant A/G snv 1.6E-05 1.4E-05
CUI: C4011949
Disease: IMMUNODEFICIENCY 27A
IMMUNODEFICIENCY 27A 		0.800 1.000 13 1997 2019
dbSNP: rs104893974
rs104893974
IFNGR1
1.000 6 137206279 missense variant C/T snv
CUI: C4011949
Disease: IMMUNODEFICIENCY 27A
IMMUNODEFICIENCY 27A 		0.800 1.000 13 1997 2019
dbSNP: rs121912715
rs121912715
IFNGR1
1.000 6 137206981 missense variant A/C;G;T snv 1.6E-05
CUI: C4011949
Disease: IMMUNODEFICIENCY 27A
IMMUNODEFICIENCY 27A 		0.800 1.000 13 1997 2019
dbSNP: rs587776856
rs587776856
IFNGR1
0.925 0.040 6 137200920 frameshift variant AATT/- delins
CUI: C4288927
Disease: IFN-gamma Receptor 1 Deficiency
IFN-gamma Receptor 1 Deficiency 		0.700 1.000 4 1999 2010
dbSNP: rs749956849
rs749956849
IFNGR1
1.000 6 137204355 frameshift variant A/- del 1.4E-05
CUI: C4011949
Disease: IMMUNODEFICIENCY 27A
IMMUNODEFICIENCY 27A 		0.700 1.000 3 2003 2010
dbSNP: rs7749390
rs7749390
IFNGR1
0.882 0.120 6 137219233 5 prime UTR variant A/G;T snv 0.43; 4.4E-06
CUI: C0149745
Disease: Oral Ulcer
Oral Ulcer 		0.700 1.000 1 2019 2019
dbSNP: rs104893973
rs104893973
IFNGR1
0.925 6 137206249 missense variant A/G snv 1.6E-05 1.4E-05
CUI: C1834752
Disease: MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO (finding)
MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO (finding) 		0.700 0
dbSNP: rs1311661488
rs1311661488
IFNGR1
1.000 6 137203577 missense variant C/T snv 8.0E-06
CUI: C4011949
Disease: IMMUNODEFICIENCY 27A
IMMUNODEFICIENCY 27A 		0.700 0
dbSNP: rs1554227230
rs1554227230
IFNGR1
1.000 6 137206134 splice donor variant A/G snv
CUI: C4011949
Disease: IMMUNODEFICIENCY 27A
IMMUNODEFICIENCY 27A 		0.700 0
dbSNP: rs193922451
rs193922451
IFNGR1
1.000 6 137206309 splice acceptor variant C/A snv
CUI: C1112429
Disease: Interferon gamma receptor deficiency
Interferon gamma receptor deficiency 		0.700 0
dbSNP: rs387906572
rs387906572
IFNGR1
1.000 6 137204432 stop gained G/A;T snv
CUI: C4011949
Disease: IMMUNODEFICIENCY 27A
IMMUNODEFICIENCY 27A 		0.700 0
dbSNP: rs387906593
rs387906593
IFNGR1
1.000 6 137219326 start lost A/C;T snv 8.6E-06; 2.2E-05
CUI: C4011949
Disease: IMMUNODEFICIENCY 27A
IMMUNODEFICIENCY 27A 		0.700 0
dbSNP: rs587776853
rs587776853
IFNGR1
1.000 6 137207032 frameshift variant G/- delins
CUI: C4011949
Disease: IMMUNODEFICIENCY 27A
IMMUNODEFICIENCY 27A 		0.700 0
dbSNP: rs587776854
rs587776854
IFNGR1
1.000 6 137207055 frameshift variant -/GTAA delins
CUI: C4011949
Disease: IMMUNODEFICIENCY 27A
IMMUNODEFICIENCY 27A 		0.700 0
dbSNP: rs587776855
rs587776855
IFNGR1
1.000 6 137206962 splice donor variant C/T snv
CUI: C4011949
Disease: IMMUNODEFICIENCY 27A
IMMUNODEFICIENCY 27A 		0.700 0
dbSNP: rs587776856
rs587776856
IFNGR1
0.925 0.040 6 137200920 frameshift variant AATT/- delins
CUI: C4014863
Disease: IMMUNODEFICIENCY 27B
IMMUNODEFICIENCY 27B 		0.700 0
dbSNP: rs587776857
rs587776857
IFNGR1
1.000 6 137206203 splice acceptor variant CTCTGACCCAAA/- delins
CUI: C4011949
Disease: IMMUNODEFICIENCY 27A
IMMUNODEFICIENCY 27A 		0.700 0
dbSNP: rs587776859
rs587776859
IFNGR1
1.000 6 137200923 frameshift variant A/- delins
CUI: C4014863
Disease: IMMUNODEFICIENCY 27B
IMMUNODEFICIENCY 27B 		0.700 0
dbSNP: rs587776860
rs587776860
IFNGR1
1.000 6 137200948 frameshift variant A/- delins
CUI: C4014863
Disease: IMMUNODEFICIENCY 27B
IMMUNODEFICIENCY 27B 		0.700 0
dbSNP: rs752113778
rs752113778
IFNGR1
1.000 6 137198047 missense variant G/A;C snv 4.0E-06; 4.0E-06
CUI: C4011949
Disease: IMMUNODEFICIENCY 27A
IMMUNODEFICIENCY 27A 		0.700 0
dbSNP: rs945137618
rs945137618
IFNGR1
1.000 6 137207053 missense variant A/G snv
CUI: C4011949
Disease: IMMUNODEFICIENCY 27A
IMMUNODEFICIENCY 27A 		0.700 0
dbSNP: rs11575936
rs11575936
IFNGR1
0.851 0.200 6 137219288 missense variant C/T snv 1.3E-03 4.1E-04
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.030 1.000 3 1999 2007
dbSNP: rs7749390
rs7749390
IFNGR1
0.882 0.120 6 137219233 5 prime UTR variant A/G;T snv 0.43; 4.4E-06
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		0.020 1.000 2 2010 2014
dbSNP: rs11575936
rs11575936
IFNGR1
0.851 0.200 6 137219288 missense variant C/T snv 1.3E-03 4.1E-04
CUI: C0026896
Disease: Myasthenia Gravis
Myasthenia Gravis 		0.010 1.000 1 2018 2018
dbSNP: rs11575936
rs11575936
IFNGR1
0.851 0.200 6 137219288 missense variant C/T snv 1.3E-03 4.1E-04
CUI: C0155877
Disease: Allergic asthma
Allergic asthma 		0.010 1.000 1 2001 2001