Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs189660050
rs189660050
ZPBP2
1 1.000 0.040 17 39870781 missense variant C/T snv 2.8E-05 1.9E-04 0.010 1.000 1 2011 2011
dbSNP: rs35258188
rs35258188
WDR72
4 1.000 0.040 15 53705141 missense variant T/G snv 3.5E-03 1.5E-02 0.700 1.000 1 2018 2018
dbSNP: rs138551969
rs138551969
VEGFA
4 1.000 0.040 6 43780749 missense variant A/G snv 1.2E-05 3.5E-05 0.700 1.000 1 2018 2018
dbSNP: rs143583842
rs143583842
UMOD
2 1.000 0.040 16 20341262 missense variant G/A;T snv 7.4E-04; 1.2E-05 0.700 1.000 1 2018 2018
dbSNP: rs28934583
rs28934583
UMOD
2 0.925 0.240 16 20348652 missense variant A/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs660339
rs660339
UCP2
24 0.695 0.320 11 73978059 missense variant G/A snv 0.41 0.43 0.010 1.000 1 2016 2016
dbSNP: rs151305324
rs151305324
TMEM171
3 1.000 0.040 5 73123606 missense variant G/A snv 6.8E-05; 8.0E-06 9.1E-05 0.700 1.000 1 2018 2018
dbSNP: rs130154
rs130154
TAFA5
1 1.000 0.040 22 48710770 intron variant C/T snv 0.69 0.010 1.000 1 2015 2015
dbSNP: rs149454410
rs149454410
SLC2A9
5 0.925 0.120 4 9942000 missense variant C/G;T snv 4.0E-05; 3.2E-04 0.700 1.000 1 2018 2018
dbSNP: rs16890979
rs16890979
SLC2A9
7 0.827 0.200 4 9920543 missense variant C/T snv 0.24 0.29 0.010 1.000 1 2018 2018
dbSNP: rs6855911
rs6855911
SLC2A9
7 0.851 0.200 4 9934286 intron variant A/G snv 0.33 0.010 1.000 1 2011 2011
dbSNP: rs33972313
rs33972313
SLC23A1
8 0.790 0.160 5 139379813 missense variant C/A;G;T snv 4.0E-06; 2.7E-02 0.010 1.000 1 2018 2018
dbSNP: rs3825016
rs3825016
SLC22A12
3 0.882 0.160 11 64591814 synonymous variant C/T snv 0.57 0.51 0.020 1.000 2 2015 2018
dbSNP: rs11231825
rs11231825
SLC22A12
5 0.827 0.240 11 64592802 synonymous variant T/C snv 0.57 0.51 0.010 1.000 1 2018 2018
dbSNP: rs11602903
rs11602903
SLC22A12
3 0.882 0.120 11 64590769 5 prime UTR variant A/T snv 0.51 0.010 1.000 1 2015 2015
dbSNP: rs121907892
rs121907892
SLC22A12
8 0.807 0.240 11 64593747 stop gained G/A;C snv 2.8E-04 0.010 1.000 1 2015 2015
dbSNP: rs1230053514
rs1230053514
SLC22A12
1 1.000 0.040 11 64598551 missense variant C/T snv 0.010 1.000 1 2011 2011
dbSNP: rs149722479
rs149722479
SLC22A12
2 0.925 0.200 11 64592788 missense variant G/A;C snv 4.8E-05; 9.6E-05 0.700 1.000 1 2018 2018
dbSNP: rs1529909
rs1529909
SLC22A12
1 1.000 0.040 11 64598471 intron variant T/A;C snv 6.5E-06; 0.57 0.010 1.000 1 2015 2015
dbSNP: rs3825017
rs3825017
SLC22A12
1 1.000 0.040 11 64591802 missense variant C/A;T snv 4.0E-06; 3.7E-02 0.010 1.000 1 2015 2015
dbSNP: rs475688
rs475688
SLC22A12
3 0.882 0.160 11 64596819 intron variant C/T snv 0.25 0.010 1.000 1 2018 2018
dbSNP: rs505802
rs505802
SLC22A12
4 0.882 0.160 11 64589600 upstream gene variant T/C snv 0.45 0.010 1.000 1 2013 2013
dbSNP: rs559946
rs559946
SLC22A12
1 1.000 0.040 11 64591133 5 prime UTR variant T/C snv 0.45 0.010 1.000 1 2014 2014
dbSNP: rs75786299
rs75786299
SLC22A12
1 1.000 0.040 11 64593570 intron variant G/A snv 9.4E-04 2.4E-04 0.010 1.000 1 2015 2015
dbSNP: rs7929627
rs7929627
SLC22A12
1 1.000 0.040 11 64600264 intron variant A/G snv 0.34 0.010 1.000 1 2015 2015