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: rs715
rs715
CPS1
13 1.000 0.040 2 210678331 3 prime UTR variant T/C snv 0.28 0.700 1.000 1 2019 2019
dbSNP: rs7296503
rs7296503
PDZRN4
13 12 41306962 intron variant C/T snv 0.57 0.700 1.000 1 2019 2019
dbSNP: rs76792961
rs76792961
FAM234A
13 16 243594 intron variant C/T snv 7.3E-03 0.700 1.000 1 2019 2019
dbSNP: rs9917425
rs9917425
OTOR
13 20 16755400 intron variant G/T snv 0.16 0.700 1.000 1 2019 2019
dbSNP: rs2239633
rs2239633
CEBPE
12 0.742 0.240 14 23119848 upstream gene variant G/A snv 0.38 0.700 1.000 2 2016 2019
dbSNP: rs17293632
rs17293632
SMAD3
12 0.763 0.240 15 67150258 intron variant C/T snv 0.17 0.700 1.000 1 2019 2019
dbSNP: rs174549
rs174549
FADS1 ; FADS2
12 0.851 0.240 11 61803910 5 prime UTR variant G/A snv 0.26 0.700 1.000 1 2016 2016
dbSNP: rs35188965
rs35188965
SLC12A7
12 5 1104823 intron variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs4409785
rs4409785 		12 0.752 0.240 11 95578258 intron variant T/C snv 0.13 0.700 1.000 1 2019 2019
dbSNP: rs1059513
rs1059513
NAB2 ; STAT6
11 0.776 0.240 12 57095926 3 prime UTR variant T/C snv 8.0E-02 0.700 1.000 1 2016 2016
dbSNP: rs17758695
rs17758695
BCL2
10 18 63253621 intron variant C/T snv 2.1E-02 0.700 1.000 2 2016 2019
dbSNP: rs1837253
rs1837253 		10 0.790 0.240 5 111066174 upstream gene variant T/C snv 0.72 0.700 1.000 1 2016 2016
dbSNP: rs218265
rs218265 		10 4 54542832 intergenic variant T/C snv 0.21 0.700 1.000 1 2016 2016
dbSNP: rs9977672
rs9977672 		10 0.827 0.120 21 39091357 intergenic variant G/A snv 0.22 0.700 1.000 1 2016 2016
dbSNP: rs445
rs445
CDK6
9 7 92779056 intron variant C/T snv 0.14 0.800 1.000 4 2011 2019
dbSNP: rs12239046
rs12239046
NLRP3
9 1 247438293 intron variant T/C snv 0.58 0.700 1.000 1 2016 2016
dbSNP: rs150813342
rs150813342
GFI1B
9 9 132989126 synonymous variant C/T snv 4.1E-03 4.1E-03 0.700 1.000 1 2016 2016
dbSNP: rs2954031
rs2954031 		9 8 125479491 intron variant G/T snv 0.42 0.700 1.000 1 2016 2016
dbSNP: rs35979828
rs35979828
NFE2
9 12 54292096 intron variant C/T snv 5.0E-02 0.700 1.000 1 2019 2019
dbSNP: rs385893
rs385893 		9 0.925 0.080 9 4763176 downstream gene variant T/C snv 0.44 0.700 1.000 1 2016 2016
dbSNP: rs112401631
rs112401631 		8 0.882 0.120 17 40608272 TF binding site variant T/A snv 1.1E-02 0.700 1.000 2 2016 2019
dbSNP: rs2228467
rs2228467
ACKR2 ; CYP8B1 ; KRBOX1
8 1.000 0.080 3 42864624 missense variant T/C snv 5.1E-02 4.7E-02 0.700 1.000 2 2016 2019
dbSNP: rs34290285
rs34290285
D2HGDH
8 0.851 0.120 2 241759225 intron variant G/A snv 0.27 0.700 1.000 2 2016 2019
dbSNP: rs8179
rs8179
CDK6
8 0.882 0.080 7 92606850 3 prime UTR variant T/A;C;G snv 0.700 1.000 2 2016 2019
dbSNP: rs1420101
rs1420101
IL18R1 ; IL1RL1
8 0.827 0.280 2 102341256 synonymous variant C/T snv 0.33 0.35 0.800 1.000 1 2009 2009