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: rs4074793
rs4074793
ITGA1
5 52897294 intron variant A/G snv 6.6E-02
CUI: C1278049
Disease: Serum gamma-glutamyl transferase measurement
Serum gamma-glutamyl transferase measurement 		0.800 1.000 2 2011 2018
dbSNP: rs11410487
rs11410487
ITGA1 ; PELO
1.000 0.080 5 52798410 intron variant -/T delins 0.91
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.700 1.000 1 2019 2019
dbSNP: rs115421711
rs115421711
ITGA1 ; PELO
5 52787392 intron variant A/G snv 2.9E-02
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs12522114
rs12522114
ITGA1
5 52891207 intron variant C/A;T snv
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function 		0.700 1.000 1 2019 2019
dbSNP: rs12522114
rs12522114
ITGA1
5 52891207 intron variant C/A;T snv
CUI: C1518922
Disease: peak expiratory flow (procedure)
peak expiratory flow (procedure) 		0.700 1.000 1 2019 2019
dbSNP: rs1499280
rs1499280
ITGA1 ; PELO
5 52801055 missense variant C/A snv 0.91 0.91
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs1551943
rs1551943
ITGA1
1.000 0.040 5 52899203 intron variant G/A snv 0.16
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.700 1.000 1 2019 2019
dbSNP: rs16880442
rs16880442
ITGA1
0.925 0.080 5 52889863 non coding transcript exon variant G/A;T snv
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.700 1.000 1 2016 2016
dbSNP: rs16880442
rs16880442
ITGA1
0.925 0.080 5 52889863 non coding transcript exon variant G/A;T snv
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.700 1.000 1 2016 2016
dbSNP: rs2456203
rs2456203
ITGA1
5 52883958 intron variant T/C snv 0.20
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function 		0.700 1.000 1 2012 2012
dbSNP: rs2456203
rs2456203
ITGA1
5 52883958 intron variant T/C snv 0.20
CUI: C0035227
Disease: Respiratory Function Tests
Respiratory Function Tests 		0.700 1.000 1 2012 2012
dbSNP: rs6879147
rs6879147
ITGA1 ; PELO
5 52792018 intron variant T/G snv 0.91
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs77853563
rs77853563
ITGA1
5 52897612 intron variant A/G snv 2.7E-02
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2019 2019
dbSNP: rs870992
rs870992
ITGA1
1.000 0.080 5 52897406 intron variant A/G snv 7.9E-02 7.0E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2018 2018
dbSNP: rs870992
rs870992
ITGA1
1.000 0.080 5 52897406 intron variant A/G snv 7.9E-02 7.0E-02
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2018 2018
dbSNP: rs2447867
rs2447867
ITGA1
0.925 0.080 5 52861540 missense variant T/C;G snv 0.79; 4.0E-06
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.010 1.000 1 2013 2013
dbSNP: rs2447867
rs2447867
ITGA1
0.925 0.080 5 52861540 missense variant T/C;G snv 0.79; 4.0E-06
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.010 1.000 1 2013 2013
dbSNP: rs870992
rs870992
ITGA1
1.000 0.080 5 52897406 intron variant A/G snv 7.9E-02 7.0E-02
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 1.000 1 2018 2018
dbSNP: rs988574
rs988574
ITGA1
1.000 0.080 5 52944980 missense variant A/G snv 5.5E-02 8.6E-02
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.010 1.000 1 2017 2017