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: rs1137070
rs1137070
MAOA
9 0.763 0.160 X 43744144 synonymous variant T/C snv 0.62 0.010 1.000 1 2010 2010
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: rs727502862
rs727502862
GPATCH8
1 1.000 0.040 17 44399142 missense variant C/G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs1232898090
rs1232898090
PPARA
40 0.637 0.600 22 46198429 missense variant G/C;T snv 4.0E-06; 4.0E-06 0.010 < 0.001 1 2012 2012
dbSNP: rs76863441
rs76863441
PLA2G7
25 0.672 0.440 6 46709361 missense variant C/A snv 4.5E-03 1.3E-03 0.010 1.000 1 2004 2004
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: rs186459505
rs186459505
SFMBT1
5 0.925 0.120 3 52907083 missense variant G/A;T snv 1.1E-04; 4.0E-06 0.700 1.000 1 2018 2018
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: rs141158222
rs141158222
BCAS1
1 1.000 0.040 20 53953466 missense variant C/T snv 1.2E-04 1.9E-04 0.700 1.000 1 2018 2018
dbSNP: rs61754122
rs61754122
BCAS1
3 1.000 0.040 20 54028628 missense variant C/A;T snv 1.1E-02; 8.0E-06 0.700 1.000 1 2018 2018
dbSNP: rs11554266
rs11554266
GNAS
4 1.000 0.040 20 58903791 splice region variant C/G;T snv 4.0E-06; 2.3E-03 0.700 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: rs893006
rs893006
SLC22A12
3 0.882 0.160 11 64598324 intron variant C/A snv 0.61 0.010 1.000 1 2009 2009
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: rs1230053514
rs1230053514
SLC22A12
1 1.000 0.040 11 64598551 missense variant C/T snv 0.010 1.000 1 2011 2011
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