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: rs201178535
rs201178535
SIPA1L3
2 1.000 0.040 19 38101163 missense variant C/T snv 4.5E-05 5.6E-05 0.700 1.000 1 2018 2018
dbSNP: rs201874364
rs201874364
ETV5
4 1.000 0.040 3 186065822 missense variant C/A;T snv 4.0E-06; 7.2E-05 0.700 1.000 1 2018 2018
dbSNP: rs202007714
rs202007714
LRIG1 ; SLC25A26
4 1.000 0.040 3 66383098 missense variant G/A;C snv 1.4E-04; 4.0E-06 0.700 1.000 1 2018 2018
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: 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: 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: 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: rs72552713
rs72552713
ABCG2
2 0.925 0.040 4 88131805 stop gained G/A snv 4.0E-04 1.2E-04 0.010 1.000 1 2018 2018
dbSNP: rs7903456
rs7903456
SHLD2
3 0.882 0.160 10 87159562 intron variant C/T snv 0.69 0.010 1.000 1 2018 2018
dbSNP: rs1653624
rs1653624
P2RX7 ; LOC105370032
2 0.925 0.120 12 121184717 missense variant T/A snv 1.5E-02 0.010 1.000 1 2017 2017
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2017 2017
dbSNP: rs2054576
rs2054576
ABCG2
4 0.882 0.160 4 88107623 intron variant A/G snv 7.8E-02 0.010 1.000 1 2017 2017
dbSNP: rs2941484
rs2941484
HNF4G
4 0.882 0.160 8 75566533 3 prime UTR variant C/T snv 0.52 0.010 1.000 1 2017 2017
dbSNP: rs4148500
rs4148500
ABCC4
1 1.000 0.040 13 95166034 intron variant G/A snv 1.9E-02 0.010 1.000 1 2017 2017
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: 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: 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: 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: rs187238
rs187238
IL18
48 0.602 0.680 11 112164265 intron variant C/A;G snv 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: rs4073
rs4073
CXCL8
64 0.566 0.800 4 73740307 upstream gene variant A/T snv 0.46 0.010 1.000 1 2015 2015
dbSNP: rs6903956
rs6903956
ADTRP
10 0.763 0.160 6 11774350 intron variant A/G snv 0.65 0.010 1.000 1 2015 2015
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