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: rs2227544
rs2227544
4 73742906 3 prime UTR variant G/A snv 4.4E-03
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
0.700 1.000 1 2012 2012
dbSNP: rs774766411
rs774766411
1.000 0.040 4 73741625 missense variant A/G snv 1.2E-05
CUI: C0017601
Disease: Glaucoma
Glaucoma
0.010 1.000 1 2016 2016
dbSNP: rs780209935
rs780209935
1.000 0.040 4 73742000 stop gained G/A snv 8.0E-06
CUI: C0679408
Disease: Lesion of stomach
Lesion of stomach
0.010 < 0.001 1 2013 2013
dbSNP: rs2227532
rs2227532
0.882 0.120 4 73739815 upstream gene variant T/C snv 2.9E-02
CUI: C0031099
Disease: Periodontitis
Periodontitis
0.020 0.500 2 2015 2017
dbSNP: rs2227532
rs2227532
0.882 0.120 4 73739815 upstream gene variant T/C snv 2.9E-02
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma
0.010 1.000 1 2015 2015
dbSNP: rs2227532
rs2227532
0.882 0.120 4 73739815 upstream gene variant T/C snv 2.9E-02
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
0.010 1.000 1 2015 2015
dbSNP: rs2227543
rs2227543
1.000 0.120 4 73742193 3 prime UTR variant C/T snv 0.32
CUI: C0017661
Disease: IGA Glomerulonephritis
IGA Glomerulonephritis
0.010 1.000 1 2011 2011
dbSNP: rs373821605
rs373821605
1.000 0.120 4 73741652 missense variant C/T snv 2.1E-05
TNF receptor-associated periodic fever syndrome (TRAPS)
0.010 1.000 1 2015 2015
dbSNP: rs1126647
rs1126647
0.827 0.160 4 73743328 3 prime UTR variant A/T snv 0.31
CUI: C0036690
Disease: Septicemia
Septicemia
0.010 1.000 1 2016 2016
dbSNP: rs1126647
rs1126647
0.827 0.160 4 73743328 3 prime UTR variant A/T snv 0.31
CUI: C0004936
Disease: Mental disorders
Mental disorders
0.010 1.000 1 2018 2018
dbSNP: rs1126647
rs1126647
0.827 0.160 4 73743328 3 prime UTR variant A/T snv 0.31
CUI: C0243026
Disease: Sepsis
Sepsis
0.010 1.000 1 2016 2016
dbSNP: rs1126647
rs1126647
0.827 0.160 4 73743328 3 prime UTR variant A/T snv 0.31
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
0.010 1.000 1 2018 2018
dbSNP: rs1126647
rs1126647
0.827 0.160 4 73743328 3 prime UTR variant A/T snv 0.31
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.010 1.000 1 2015 2015
dbSNP: rs1126647
rs1126647
0.827 0.160 4 73743328 3 prime UTR variant A/T snv 0.31
CUI: C1704272
Disease: Benign Prostatic Hyperplasia
Benign Prostatic Hyperplasia
0.010 1.000 1 2019 2019
dbSNP: rs1126647
rs1126647
0.827 0.160 4 73743328 3 prime UTR variant A/T snv 0.31
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.010 1.000 1 2019 2019
dbSNP: rs1126647
rs1126647
0.827 0.160 4 73743328 3 prime UTR variant A/T snv 0.31
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
0.010 1.000 1 2019 2019
dbSNP: rs2227307
rs2227307
0.851 0.240 4 73740952 intron variant T/G snv 0.45
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
0.020 1.000 2 2016 2017
dbSNP: rs2227307
rs2227307
0.851 0.240 4 73740952 intron variant T/G snv 0.45
CUI: C0024115
Disease: Lung diseases
Lung diseases
0.010 1.000 1 2016 2016
dbSNP: rs2227307
rs2227307
0.851 0.240 4 73740952 intron variant T/G snv 0.45
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis
0.010 1.000 1 2011 2011
dbSNP: rs2227307
rs2227307
0.851 0.240 4 73740952 intron variant T/G snv 0.45
CUI: C1332206
Disease: Adult Lymphoma
Adult Lymphoma
0.010 1.000 1 2014 2014
dbSNP: rs2227307
rs2227307
0.851 0.240 4 73740952 intron variant T/G snv 0.45
CUI: C0024299
Disease: Lymphoma
Lymphoma
0.010 1.000 1 2014 2014
dbSNP: rs2227307
rs2227307
0.851 0.240 4 73740952 intron variant T/G snv 0.45
CUI: C1332979
Disease: Childhood Lymphoma
Childhood Lymphoma
0.010 1.000 1 2014 2014
dbSNP: rs2227306
rs2227306
0.677 0.680 4 73741338 intron variant C/T snv 0.31
CUI: C0004096
Disease: Asthma
Asthma
0.010 1.000 1 2017 2017
dbSNP: rs2227306
rs2227306
0.677 0.680 4 73741338 intron variant C/T snv 0.31
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.010 1.000 1 2019 2019
dbSNP: rs2227306
rs2227306
0.677 0.680 4 73741338 intron variant C/T snv 0.31
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
0.010 1.000 1 2019 2019