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: rs2231142
rs2231142
ABCG2
0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia 		0.800 1.000 10 2010 2019
dbSNP: rs11554266
rs11554266
GNAS
1.000 0.040 20 58903791 splice region variant C/G;T snv 4.0E-06; 2.3E-03
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia 		0.700 1.000 1 2018 2018
dbSNP: rs138551969
rs138551969
VEGFA
1.000 0.040 6 43780749 missense variant A/G snv 1.2E-05 3.5E-05
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia 		0.700 1.000 1 2018 2018
dbSNP: rs141158222
rs141158222
BCAS1
1.000 0.040 20 53953466 missense variant C/T snv 1.2E-04 1.9E-04
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia 		0.700 1.000 1 2018 2018
dbSNP: rs141310123
rs141310123
NFATC1
0.925 0.120 18 79411390 missense variant C/A;T snv 2.1E-04; 4.8E-06
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia 		0.700 1.000 1 2018 2018
dbSNP: rs142226072
rs142226072
DPEP1
1.000 0.040 16 89637551 splice region variant C/T snv 2.2E-04 3.6E-04
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia 		0.700 1.000 1 2018 2018
dbSNP: rs143231463
rs143231463
RREB1
1.000 0.040 6 7226577 missense variant A/G snv 1.8E-04 2.1E-04
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia 		0.700 1.000 1 2018 2018
dbSNP: rs143583842
rs143583842
UMOD
1.000 0.040 16 20341262 missense variant G/A;T snv 7.4E-04; 1.2E-05
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia 		0.700 1.000 1 2018 2018
dbSNP: rs143709408
rs143709408
KCNQ1
0.882 0.200 11 2527999 missense variant C/T snv 1.6E-04 3.6E-04
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia 		0.700 1.000 1 2018 2018
dbSNP: rs147445322
rs147445322
KCNQ1 ; KCNQ1-AS1
0.882 0.120 11 2847803 missense variant G/A;T snv 7.2E-05; 5.5E-06
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia 		0.700 1.000 1 2018 2018
dbSNP: rs149454410
rs149454410
SLC2A9
0.925 0.120 4 9942000 missense variant C/G;T snv 4.0E-05; 3.2E-04
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia 		0.700 1.000 1 2018 2018
dbSNP: rs149722479
rs149722479
SLC22A12
0.925 0.200 11 64592788 missense variant G/A;C snv 4.8E-05; 9.6E-05
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia 		0.700 1.000 1 2018 2018
dbSNP: rs150801101
rs150801101
IGF1R
1.000 0.040 15 98957359 missense variant G/A snv 1.1E-04 3.6E-04
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia 		0.700 1.000 1 2018 2018
dbSNP: rs151305324
rs151305324
TMEM171
1.000 0.040 5 73123606 missense variant G/A snv 6.8E-05; 8.0E-06 9.1E-05
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia 		0.700 1.000 1 2018 2018
dbSNP: rs186459505
rs186459505
SFMBT1
0.925 0.120 3 52907083 missense variant G/A;T snv 1.1E-04; 4.0E-06
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia 		0.700 1.000 1 2018 2018
dbSNP: rs199897813
rs199897813
ABCG2
1.000 0.040 4 88094576 splice donor variant C/A;T snv 5.2E-05
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia 		0.700 1.000 1 2018 2018
dbSNP: rs200469773
rs200469773
LRP2
0.925 0.120 2 169237232 missense variant C/T snv 4.0E-05 4.2E-05
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia 		0.700 1.000 1 2018 2018
dbSNP: rs200548390
rs200548390
BAZ1B
1.000 0.040 7 73478187 missense variant T/C snv 3.3E-04 3.5E-05
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia 		0.700 1.000 1 2018 2018
dbSNP: rs200933617
rs200933617
NFAT5
1.000 0.040 16 69647162 missense variant G/A snv 8.2E-04 6.7E-04
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia 		0.700 1.000 1 2018 2018
dbSNP: rs201178535
rs201178535
SIPA1L3
1.000 0.040 19 38101163 missense variant C/T snv 4.5E-05 5.6E-05
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia 		0.700 1.000 1 2018 2018
dbSNP: rs201874364
rs201874364
ETV5
1.000 0.040 3 186065822 missense variant C/A;T snv 4.0E-06; 7.2E-05
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia 		0.700 1.000 1 2018 2018
dbSNP: rs202007714
rs202007714
LRIG1 ; SLC25A26
1.000 0.040 3 66383098 missense variant G/A;C snv 1.4E-04; 4.0E-06
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia 		0.700 1.000 1 2018 2018
dbSNP: rs35258188
rs35258188
WDR72
1.000 0.040 15 53705141 missense variant T/G snv 3.5E-03 1.5E-02
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia 		0.700 1.000 1 2018 2018
dbSNP: rs61754122
rs61754122
BCAS1
1.000 0.040 20 54028628 missense variant C/A;T snv 1.1E-02; 8.0E-06
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia 		0.700 1.000 1 2018 2018
dbSNP: rs1555206402
rs1555206402
HMBS
0.790 0.320 11 119093274 stop lost GCCCATTAACTGGTTTGTGGGGCACAGATGCCTGGGTTGCTGCTGTCCAGTGCCT/- delins
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia 		0.700 0