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: rs316019
rs316019
SLC22A2
0.790 0.360 6 160249250 missense variant A/C snv 0.90 0.89
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.020 1.000 2 2010 2015
dbSNP: rs145450955
rs145450955
SLC22A2
1.000 0.080 6 160250619 missense variant G/A snv 3.4E-04 9.8E-05
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 1.000 1 2015 2015
dbSNP: rs316019
rs316019
SLC22A2
0.790 0.360 6 160249250 missense variant A/C snv 0.90 0.89
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.010 1.000 1 2010 2010
dbSNP: rs316019
rs316019
SLC22A2
0.790 0.360 6 160249250 missense variant A/C snv 0.90 0.89
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.010 1.000 1 2010 2010
dbSNP: rs316019
rs316019
SLC22A2
0.790 0.360 6 160249250 missense variant A/C snv 0.90 0.89
CUI: C0795692
Disease: Hyperlactatemia
Hyperlactatemia 		0.010 1.000 1 2010 2010
dbSNP: rs316019
rs316019
SLC22A2
0.790 0.360 6 160249250 missense variant A/C snv 0.90 0.89
CUI: C0546837
Disease: Malignant neoplasm of esophagus
Malignant neoplasm of esophagus 		0.010 1.000 1 2013 2013
dbSNP: rs316019
rs316019
SLC22A2
0.790 0.360 6 160249250 missense variant A/C snv 0.90 0.89
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		0.010 1.000 1 2019 2019
dbSNP: rs316019
rs316019
SLC22A2
0.790 0.360 6 160249250 missense variant A/C snv 0.90 0.89
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		0.010 1.000 1 2006 2006
dbSNP: rs316019
rs316019
SLC22A2
0.790 0.360 6 160249250 missense variant A/C snv 0.90 0.89
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy 		0.010 1.000 1 2010 2010
dbSNP: rs316021
rs316021
SLC22A2
1.000 0.200 6 160247009 intron variant C/T snv 0.70
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.010 1.000 1 2011 2011
dbSNP: rs3912161
rs3912161
SLC22A2
1.000 0.200 6 160248686 intron variant T/C snv 5.7E-02
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.010 1.000 1 2011 2011
dbSNP: rs772658003
rs772658003
SLC22A2
1.000 0.040 6 160249246 frameshift variant GAGAA/- delins
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		0.010 1.000 1 2006 2006