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: rs1014290
rs1014290
0.827 0.280 4 10000237 intron variant G/A snv 0.72
CUI: C0018099
Disease: Gout
Gout
0.810 1.000 1 2010 2019
dbSNP: rs1014290
rs1014290
0.827 0.280 4 10000237 intron variant G/A snv 0.72
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.010 1.000 1 2017 2017
dbSNP: rs1014290
rs1014290
0.827 0.280 4 10000237 intron variant G/A snv 0.72
CUI: C0022650
Disease: Kidney Calculi
Kidney Calculi
0.010 1.000 1 2010 2010
dbSNP: rs1014290
rs1014290
0.827 0.280 4 10000237 intron variant G/A snv 0.72
CUI: C0392525
Disease: Nephrolithiasis
Nephrolithiasis
0.010 1.000 1 2010 2010
dbSNP: rs7947224
rs7947224
1.000 0.040 11 100002678 intron variant T/C snv 0.39
CUI: C0003125
Disease: Anorexia Nervosa
Anorexia Nervosa
0.010 1.000 1 2009 2009
dbSNP: rs1131692272
rs1131692272
0.851 0.240 2 100006808 missense variant C/T snv
CUI: C0410536
Disease: Mesomelic dysplasia
Mesomelic dysplasia
0.010 1.000 1 2019 2019
dbSNP: rs545854
rs545854
0.882 0.160 8 10002570 intron variant G/C snv 0.85
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia
0.010 1.000 1 2019 2019
dbSNP: rs545854
rs545854
0.882 0.160 8 10002570 intron variant G/C snv 0.85
CUI: C0028754
Disease: Obesity
Obesity
0.010 1.000 1 2011 2011
dbSNP: rs1190983
rs1190983
EVL
0.925 0.080 14 100031649 intron variant T/C snv 0.61
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.010 1.000 1 2018 2018
dbSNP: rs1190983
rs1190983
EVL
0.925 0.080 14 100031649 intron variant T/C snv 0.61
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.010 1.000 1 2018 2018
dbSNP: rs10883437
rs10883437
1.000 0.040 10 100035604 regulatory region variant T/A;G snv 0.43
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease
0.010 1.000 1 2019 2019
dbSNP: rs4965272
rs4965272
1.000 0.040 15 100044534 intron variant T/A;G snv 0.35
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease
0.010 1.000 1 2019 2019
dbSNP: rs3750716
rs3750716
0.925 0.120 10 100057106 synonymous variant C/G;T snv 6.6E-03
CUI: C0011633
Disease: Dermatomyositis
Dermatomyositis
0.710 1.000 1 2016 2016
dbSNP: rs3750716
rs3750716
0.925 0.120 10 100057106 synonymous variant C/G;T snv 6.6E-03
CUI: C0221056
Disease: Adult type dermatomyositis
Adult type dermatomyositis
0.010 1.000 1 2016 2016
dbSNP: rs3755955
rs3755955
0.925 0.080 4 1000626 missense variant G/A;C snv 0.16; 8.0E-06
CUI: C0029459
Disease: Osteoporosis, Senile
Osteoporosis, Senile
0.010 1.000 1 2019 2019
dbSNP: rs3755955
rs3755955
0.925 0.080 4 1000626 missense variant G/A;C snv 0.16; 8.0E-06
CUI: C0029456
Disease: Osteoporosis
Osteoporosis
0.010 1.000 1 2019 2019
dbSNP: rs41274221
rs41274221
0.851 0.160 7 100093577 mature miRNA variant C/T snv 6.4E-05 4.9E-05
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 1.000 1 2016 2016
dbSNP: rs41274221
rs41274221
0.851 0.160 7 100093577 mature miRNA variant C/T snv 6.4E-05 4.9E-05
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.010 1.000 1 2016 2016
dbSNP: rs41274221
rs41274221
0.851 0.160 7 100093577 mature miRNA variant C/T snv 6.4E-05 4.9E-05
CUI: C0036690
Disease: Septicemia
Septicemia
0.010 1.000 1 2019 2019
dbSNP: rs41274221
rs41274221
0.851 0.160 7 100093577 mature miRNA variant C/T snv 6.4E-05 4.9E-05
CUI: C0243026
Disease: Sepsis
Sepsis
0.010 1.000 1 2019 2019
dbSNP: rs41274221
rs41274221
0.851 0.160 7 100093577 mature miRNA variant C/T snv 6.4E-05 4.9E-05
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
0.010 1.000 1 2016 2016
dbSNP: rs41274221
rs41274221
0.851 0.160 7 100093577 mature miRNA variant C/T snv 6.4E-05 4.9E-05
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma
0.010 1.000 1 2016 2016
dbSNP: rs1534309
rs1534309
1.000 0.040 7 100098747 intron variant C/A;G;T snv 8.0E-06; 0.81; 1.2E-05
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.010 1.000 1 2017 2017
dbSNP: rs2070215
rs2070215
1.000 0.040 7 100099174 missense variant T/C snv 0.24 0.20
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.010 1.000 1 2017 2017
dbSNP: rs999885
rs999885
0.925 0.120 7 100103553 intron variant G/A snv 0.56 0.46
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.020 1.000 2 2012 2014