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: 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: 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: 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: 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: 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: rs671
rs671
ALDH2
116 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 0.010 < 0.001 1 2019 2019
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: rs200933617
rs200933617
NFAT5
3 1.000 0.040 16 69647162 missense variant G/A snv 8.2E-04 6.7E-04 0.700 1.000 1 2018 2018
dbSNP: rs142226072
rs142226072
DPEP1
1 1.000 0.040 16 89637551 splice region variant C/T snv 2.2E-04 3.6E-04 0.700 1.000 1 2018 2018
dbSNP: rs143709408
rs143709408
KCNQ1
5 0.882 0.200 11 2527999 missense variant C/T snv 1.6E-04 3.6E-04 0.700 1.000 1 2018 2018
dbSNP: rs150801101
rs150801101
IGF1R
1 1.000 0.040 15 98957359 missense variant G/A snv 1.1E-04 3.6E-04 0.700 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: rs143231463
rs143231463
RREB1
3 1.000 0.040 6 7226577 missense variant A/G snv 1.8E-04 2.1E-04 0.700 1.000 1 2018 2018
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: 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: 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: 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: 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: rs200469773
rs200469773
LRP2
2 0.925 0.120 2 169237232 missense variant C/T snv 4.0E-05 4.2E-05 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: rs200548390
rs200548390
BAZ1B
1 1.000 0.040 7 73478187 missense variant T/C snv 3.3E-04 3.5E-05 0.700 1.000 1 2018 2018
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.030 1.000 3 2007 2012
dbSNP: rs2231142
rs2231142
ABCG2
56 0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 0.800 1.000 10 2010 2019
dbSNP: rs1025993235
rs1025993235
PRPSAP2
1 1.000 0.040 17 18865880 missense variant C/T snv 0.010 1.000 1 2011 2011
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