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: rs2000999
rs2000999
1.000 0.080 16 72074194 intron variant G/A snv 0.16
Diabetes Mellitus, Non-Insulin-Dependent
0.020 0.500 2 2019 2019
dbSNP: rs1298695421
rs1298695421
0.925 0.040 16 72060682 missense variant C/T snv 7.0E-06
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)
0.010 1.000 1 2019 2019
dbSNP: rs1298695421
rs1298695421
0.925 0.040 16 72060682 missense variant C/T snv 7.0E-06
CUI: C0042900
Disease: Vitiligo
Vitiligo
0.010 1.000 1 2019 2019
dbSNP: rs2000999
rs2000999
1.000 0.080 16 72074194 intron variant G/A snv 0.16
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.010 1.000 1 2019 2019
dbSNP: rs2070937
rs2070937
1.000 0.040 16 72055841 non coding transcript exon variant A/G snv 0.56
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.010 1.000 1 2007 2007
dbSNP: rs4788458
rs4788458
1.000 0.080 16 72054776 non coding transcript exon variant T/A;C snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.010 1.000 1 2017 2017
dbSNP: rs5470
rs5470
0.882 0.160 16 72054522 5 prime UTR variant C/G;T snv
CUI: C0343723
Disease: Neonatal chlamydial conjunctivitis
Neonatal chlamydial conjunctivitis
0.010 1.000 1 2010 2010
dbSNP: rs5470
rs5470
0.882 0.160 16 72054522 5 prime UTR variant C/G;T snv
CUI: C0040592
Disease: Trachoma
Trachoma
0.010 1.000 1 2010 2010
dbSNP: rs5470
rs5470
0.882 0.160 16 72054522 5 prime UTR variant C/G;T snv
CUI: C0037054
Disease: Sickle Cell Trait
Sickle Cell Trait
0.010 1.000 1 2010 2010
dbSNP: rs5471
rs5471
0.882 0.160 16 72054562 5 prime UTR variant A/C;G snv 7.9E-03
CUI: C0040592
Disease: Trachoma
Trachoma
0.010 1.000 1 2010 2010
dbSNP: rs5471
rs5471
0.882 0.160 16 72054562 5 prime UTR variant A/C;G snv 7.9E-03
CUI: C0037054
Disease: Sickle Cell Trait
Sickle Cell Trait
0.010 1.000 1 2010 2010
dbSNP: rs5471
rs5471
0.882 0.160 16 72054562 5 prime UTR variant A/C;G snv 7.9E-03
CUI: C0343723
Disease: Neonatal chlamydial conjunctivitis
Neonatal chlamydial conjunctivitis
0.010 1.000 1 2010 2010
dbSNP: rs5472
rs5472
1.000 0.080 16 72054568 5 prime UTR variant A/G snv 0.33
CUI: C1328504
Disease: Hormone refractory prostate cancer
Hormone refractory prostate cancer
0.010 1.000 1 2015 2015
dbSNP: rs5473
rs5473
1.000 0.040 16 72059118 splice region variant G/A snv 1.2E-02 5.9E-03
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.010 1.000 1 2007 2007
dbSNP: rs75444904
rs75444904
0.851 0.160 16 72061751 intron variant A/C snv 2.4E-02
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic
0.010 1.000 1 2018 2018
dbSNP: rs75444904
rs75444904
0.851 0.160 16 72061751 intron variant A/C snv 2.4E-02
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy
0.010 1.000 1 2018 2018
dbSNP: rs75444904
rs75444904
0.851 0.160 16 72061751 intron variant A/C snv 2.4E-02
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5
0.010 1.000 1 2018 2018
dbSNP: rs9927981
rs9927981
1.000 0.080 16 72054753 non coding transcript exon variant C/T snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.010 1.000 1 2017 2017