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: 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: rs1555206402
rs1555206402
HMBS
26 0.790 0.320 11 119093274 stop lost GCCCATTAACTGGTTTGTGGGGCACAGATGCCTGGGTTGCTGCTGTCCAGTGCCT/- delins 0.700 0
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: 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: 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: rs1822825
rs1822825
PPARG
2 0.925 0.080 3 12408464 intron variant G/A snv 0.61 0.010 1.000 1 2013 2013
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: rs187238
rs187238
IL18
48 0.602 0.680 11 112164265 intron variant C/A;G snv 0.010 1.000 1 2015 2015
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: rs199897813
rs199897813
ABCG2
2 1.000 0.040 4 88094576 splice donor variant C/A;T snv 5.2E-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: 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: 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: 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: 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: 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: rs2544390
rs2544390
LRP2
4 0.925 0.080 2 169348336 intron variant C/T snv 0.45 0.010 1.000 1 2013 2013
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: 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: 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: 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: 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