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: rs41274050
rs41274050
A1CF ; ASAH2B
10 50814012 missense variant C/A;T snv 4.0E-06; 5.3E-03
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 3 2017 2019
dbSNP: rs10821876
rs10821876
A1CF
1.000 0.040 10 50843482 intron variant T/A;C snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 1.000 1 2017 2017
dbSNP: rs10821905
rs10821905
A1CF
0.925 0.120 10 50886333 upstream gene variant G/A;T snv
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		0.700 1.000 1 2013 2013
dbSNP: rs10821905
rs10821905
A1CF
0.925 0.120 10 50886333 upstream gene variant G/A;T snv
CUI: C0018099
Disease: Gout
Gout 		0.700 1.000 1 2013 2013
dbSNP: rs10821905
rs10821905
A1CF
0.925 0.120 10 50886333 upstream gene variant G/A;T snv
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs10821905
rs10821905
A1CF
0.925 0.120 10 50886333 upstream gene variant G/A;T snv
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.700 1.000 1 2013 2013
dbSNP: rs17592117
rs17592117
A1CF
0.925 0.120 10 50883278 intron variant T/C;G snv
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		0.700 1.000 1 2013 2013
dbSNP: rs17592117
rs17592117
A1CF
0.925 0.120 10 50883278 intron variant T/C;G snv
CUI: C0018099
Disease: Gout
Gout 		0.700 1.000 1 2013 2013
dbSNP: rs41274050
rs41274050
A1CF ; ASAH2B
10 50814012 missense variant C/A;T snv 4.0E-06; 5.3E-03
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2018 2018
dbSNP: rs41274050
rs41274050
A1CF ; ASAH2B
10 50814012 missense variant C/A;T snv 4.0E-06; 5.3E-03
CUI: C0001948
Disease: Alcohol consumption
Alcohol consumption 		0.700 1.000 1 2019 2019
dbSNP: rs41274050
rs41274050
A1CF ; ASAH2B
10 50814012 missense variant C/A;T snv 4.0E-06; 5.3E-03
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2018 2018
dbSNP: rs4256922
rs4256922
A1CF ; ASAH2B
10 50808856 intron variant T/C;G snv
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.700 1.000 1 2015 2015
dbSNP: rs750443908
rs750443908
A1CF
1.000 0.080 10 50859904 missense variant C/A;T snv 6.0E-05; 8.0E-06
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.010 1.000 1 2014 2014
dbSNP: rs12266425
rs12266425
A1CF
1.000 0.040 10 50866013 intron variant A/G snv 9.9E-03
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 1.000 1 2017 2017
dbSNP: rs4488147
rs4488147
A1CF
1.000 0.040 10 50837871 intron variant C/T snv 2.2E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 1.000 1 2017 2017
dbSNP: rs12243360
rs12243360
A1CF
1.000 0.040 10 50848012 intron variant C/T snv 5.2E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 1.000 1 2017 2017
dbSNP: rs10994731
rs10994731
A1CF
0.925 0.120 10 50854429 intron variant A/G snv 8.4E-02
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		0.700 1.000 1 2013 2013
dbSNP: rs10994731
rs10994731
A1CF
0.925 0.120 10 50854429 intron variant A/G snv 8.4E-02
CUI: C0018099
Disease: Gout
Gout 		0.700 1.000 1 2013 2013
dbSNP: rs4567398
rs4567398
A1CF
0.925 0.120 10 50857162 intron variant C/T snv 8.5E-02
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		0.700 1.000 1 2013 2013
dbSNP: rs4567398
rs4567398
A1CF
0.925 0.120 10 50857162 intron variant C/T snv 8.5E-02
CUI: C0018099
Disease: Gout
Gout 		0.700 1.000 1 2013 2013
dbSNP: rs17500631
rs17500631
A1CF
1.000 0.040 10 50867812 intron variant G/T snv 0.12
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 1.000 1 2017 2017
dbSNP: rs10994860
rs10994860
A1CF
0.925 0.120 10 50885664 5 prime UTR variant C/T snv 0.19
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 2 2016 2019
dbSNP: rs10994860
rs10994860
A1CF
0.925 0.120 10 50885664 5 prime UTR variant C/T snv 0.19
CUI: C0018099
Disease: Gout
Gout 		0.700 1.000 1 2013 2013
dbSNP: rs10994860
rs10994860
A1CF
0.925 0.120 10 50885664 5 prime UTR variant C/T snv 0.19
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		0.700 1.000 1 2013 2013
dbSNP: rs10994860
rs10994860
A1CF
0.925 0.120 10 50885664 5 prime UTR variant C/T snv 0.19
CUI: C0201976
Disease: Creatinine measurement, serum (procedure)
Creatinine measurement, serum (procedure) 		0.700 1.000 1 2016 2016