Source: BEFREE

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: rs1801274
rs1801274
0.597 0.800 1 161509955 missense variant A/C;G snv 4.0E-06; 0.48
CUI: C0026691
Disease: Mucocutaneous Lymph Node Syndrome
Mucocutaneous Lymph Node Syndrome
0.880 1.000 8 2011 2019
dbSNP: rs1801274
rs1801274
0.597 0.800 1 161509955 missense variant A/C;G snv 4.0E-06; 0.48
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.850 1.000 5 2009 2018
dbSNP: rs1801274
rs1801274
0.597 0.800 1 161509955 missense variant A/C;G snv 4.0E-06; 0.48
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.810 1.000 1 2008 2017
dbSNP: rs6671847
rs6671847
0.925 0.120 1 161509020 intron variant G/A snv 0.43
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.710 1.000 1 2009 2015
dbSNP: rs1801274
rs1801274
0.597 0.800 1 161509955 missense variant A/C;G snv 4.0E-06; 0.48
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.040 1.000 4 2009 2019
dbSNP: rs1801274
rs1801274
0.597 0.800 1 161509955 missense variant A/C;G snv 4.0E-06; 0.48
CUI: C0266929
Disease: Chronic Periodontitis
Chronic Periodontitis
0.020 1.000 2 2016 2019
dbSNP: rs1801274
rs1801274
0.597 0.800 1 161509955 missense variant A/C;G snv 4.0E-06; 0.48
CUI: C0011311
Disease: Dengue Fever
Dengue Fever
0.020 1.000 2 2014 2015
dbSNP: rs1801274
rs1801274
0.597 0.800 1 161509955 missense variant A/C;G snv 4.0E-06; 0.48
CUI: C0019100
Disease: Severe Dengue
Severe Dengue
0.020 0.500 2 2015 2018
dbSNP: rs1801274
rs1801274
0.597 0.800 1 161509955 missense variant A/C;G snv 4.0E-06; 0.48
CUI: C0398650
Disease: Immune thrombocytopenic purpura
Immune thrombocytopenic purpura
0.010 1.000 1 2014 2014
dbSNP: rs1801274
rs1801274
0.597 0.800 1 161509955 missense variant A/C;G snv 4.0E-06; 0.48
CUI: C2062441
Disease: Influenza A
Influenza A
0.010 1.000 1 2019 2019
dbSNP: rs1801274
rs1801274
0.597 0.800 1 161509955 missense variant A/C;G snv 4.0E-06; 0.48
CUI: C1855179
Disease: CATARACT, ANTERIOR POLAR
CATARACT, ANTERIOR POLAR
0.010 1.000 1 2011 2011
dbSNP: rs1801274
rs1801274
0.597 0.800 1 161509955 missense variant A/C;G snv 4.0E-06; 0.48
CUI: C0018378
Disease: Guillain-Barre Syndrome
Guillain-Barre Syndrome
0.010 1.000 1 2016 2016
dbSNP: rs1801274
rs1801274
0.597 0.800 1 161509955 missense variant A/C;G snv 4.0E-06; 0.48
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.010 < 0.001 1 2018 2018
dbSNP: rs1801274
rs1801274
0.597 0.800 1 161509955 missense variant A/C;G snv 4.0E-06; 0.48
CUI: C0376620
Disease: Pouchitis
Pouchitis
0.010 1.000 1 2019 2019
dbSNP: rs1801274
rs1801274
0.597 0.800 1 161509955 missense variant A/C;G snv 4.0E-06; 0.48
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
0.010 1.000 1 2012 2012
dbSNP: rs1801274
rs1801274
0.597 0.800 1 161509955 missense variant A/C;G snv 4.0E-06; 0.48
CUI: C1848296
Disease: DOSAGE-SENSITIVE SEX REVERSAL
DOSAGE-SENSITIVE SEX REVERSAL
0.010 1.000 1 2015 2015
dbSNP: rs1801274
rs1801274
0.597 0.800 1 161509955 missense variant A/C;G snv 4.0E-06; 0.48
CUI: C1704321
Disease: Nephrotic Syndrome, Minimal Change
Nephrotic Syndrome, Minimal Change
0.010 1.000 1 2018 2018
dbSNP: rs1801274
rs1801274
0.597 0.800 1 161509955 missense variant A/C;G snv 4.0E-06; 0.48
CUI: C0021400
Disease: Influenza
Influenza
0.010 1.000 1 2006 2006
dbSNP: rs1801274
rs1801274
0.597 0.800 1 161509955 missense variant A/C;G snv 4.0E-06; 0.48
CUI: C0694549
Disease: Community acquired pneumonia
Community acquired pneumonia
0.010 1.000 1 2011 2011
dbSNP: rs1801274
rs1801274
0.597 0.800 1 161509955 missense variant A/C;G snv 4.0E-06; 0.48
CUI: C4721532
Disease: Lymphoma, Non-Hodgkin, Familial
Lymphoma, Non-Hodgkin, Familial
0.010 1.000 1 2006 2006
dbSNP: rs1801274
rs1801274
0.597 0.800 1 161509955 missense variant A/C;G snv 4.0E-06; 0.48
CUI: C2936258
Disease: Peri-Implantitis
Peri-Implantitis
0.010 1.000 1 2019 2019
dbSNP: rs1801274
rs1801274
0.597 0.800 1 161509955 missense variant A/C;G snv 4.0E-06; 0.48
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.010 < 0.001 1 2015 2015
dbSNP: rs1801274
rs1801274
0.597 0.800 1 161509955 missense variant A/C;G snv 4.0E-06; 0.48
CUI: C0031099
Disease: Periodontitis
Periodontitis
0.010 1.000 1 2013 2013
dbSNP: rs1801274
rs1801274
0.597 0.800 1 161509955 missense variant A/C;G snv 4.0E-06; 0.48
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.010 < 0.001 1 2018 2018
dbSNP: rs1801274
rs1801274
0.597 0.800 1 161509955 missense variant A/C;G snv 4.0E-06; 0.48
CUI: C0220612
Disease: Childhood Non-Hodgkin Lymphoma
Childhood Non-Hodgkin Lymphoma
0.010 1.000 1 2006 2006