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: rs5744168
rs5744168
0.701 0.480 1 223111858 stop gained G/A snv 5.3E-02 4.4E-02
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.050 0.800 5 2007 2017
dbSNP: rs5744168
rs5744168
0.701 0.480 1 223111858 stop gained G/A snv 5.3E-02 4.4E-02
CUI: C0004610
Disease: Bacteremia
Bacteremia
0.020 1.000 2 2015 2017
dbSNP: rs5744168
rs5744168
0.701 0.480 1 223111858 stop gained G/A snv 5.3E-02 4.4E-02
CUI: C0238013
Disease: Invasive aspergillosis
Invasive aspergillosis
0.010 < 0.001 1 2013 2013
dbSNP: rs5744168
rs5744168
0.701 0.480 1 223111858 stop gained G/A snv 5.3E-02 4.4E-02
CUI: C0011847
Disease: Diabetes
Diabetes
0.010 1.000 1 2013 2013
dbSNP: rs5744168
rs5744168
0.701 0.480 1 223111858 stop gained G/A snv 5.3E-02 4.4E-02
CUI: C0024143
Disease: Lupus Nephritis
Lupus Nephritis
0.010 1.000 1 2017 2017
dbSNP: rs5744168
rs5744168
0.701 0.480 1 223111858 stop gained G/A snv 5.3E-02 4.4E-02
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.010 1.000 1 2013 2013
dbSNP: rs5744168
rs5744168
0.701 0.480 1 223111858 stop gained G/A snv 5.3E-02 4.4E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.010 1.000 1 2017 2017
dbSNP: rs5744168
rs5744168
0.701 0.480 1 223111858 stop gained G/A snv 5.3E-02 4.4E-02
CUI: C1336076
Disease: Sporadic Breast Carcinoma
Sporadic Breast Carcinoma
0.010 1.000 1 2017 2017
dbSNP: rs5744168
rs5744168
0.701 0.480 1 223111858 stop gained G/A snv 5.3E-02 4.4E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.010 1.000 1 2017 2017
dbSNP: rs5744168
rs5744168
0.701 0.480 1 223111858 stop gained G/A snv 5.3E-02 4.4E-02
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
0.010 1.000 1 2010 2010
dbSNP: rs5744168
rs5744168
0.701 0.480 1 223111858 stop gained G/A snv 5.3E-02 4.4E-02
CUI: C0027697
Disease: Nephritis
Nephritis
0.010 1.000 1 2009 2009
dbSNP: rs5744168
rs5744168
0.701 0.480 1 223111858 stop gained G/A snv 5.3E-02 4.4E-02
CUI: C0006287
Disease: Bronchopulmonary Dysplasia
Bronchopulmonary Dysplasia
0.010 1.000 1 2012 2012
dbSNP: rs5744168
rs5744168
0.701 0.480 1 223111858 stop gained G/A snv 5.3E-02 4.4E-02
Infection caused by Helicobacter pylori
0.010 1.000 1 2017 2017
dbSNP: rs5744168
rs5744168
0.701 0.480 1 223111858 stop gained G/A snv 5.3E-02 4.4E-02
CUI: C0042029
Disease: Urinary tract infection
Urinary tract infection
0.010 1.000 1 2015 2015
dbSNP: rs5744168
rs5744168
0.701 0.480 1 223111858 stop gained G/A snv 5.3E-02 4.4E-02
Diabetes Mellitus, Non-Insulin-Dependent
0.010 1.000 1 2013 2013
dbSNP: rs5744168
rs5744168
0.701 0.480 1 223111858 stop gained G/A snv 5.3E-02 4.4E-02
CUI: C0028754
Disease: Obesity
Obesity
0.010 1.000 1 2013 2013
dbSNP: rs5744168
rs5744168
0.701 0.480 1 223111858 stop gained G/A snv 5.3E-02 4.4E-02
CUI: C0025229
Disease: Melioidosis
Melioidosis
0.010 < 0.001 1 2017 2017