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: rs116909374
rs116909374 		11 0.776 0.120 14 36269155 regulatory region variant C/T snv 2.3E-02 0.010 1.000 1 2019 2019
dbSNP: rs13293512
rs13293512 		11 0.763 0.360 9 94167461 intron variant T/C snv 0.24 0.010 1.000 1 2015 2015
dbSNP: rs135745
rs135745 		13 0.763 0.200 22 38287631 downstream gene variant G/C snv 0.48 0.010 1.000 1 2019 2019
dbSNP: rs9302752
rs9302752 		2 0.925 0.120 16 50685192 upstream gene variant T/C snv 0.68 0.010 1.000 1 2012 2012
dbSNP: rs944289
rs944289 		16 0.742 0.200 14 36180040 upstream gene variant C/T snv 0.45 0.010 1.000 1 2019 2019
dbSNP: rs2231142
rs2231142
ABCG2
56 0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 0.010 1.000 1 2019 2019
dbSNP: rs2622621
rs2622621
ABCG2
6 0.851 0.240 4 88109768 intron variant C/A;G snv 0.010 1.000 1 2019 2019
dbSNP: rs8176746
rs8176746
ABO
12 0.882 0.160 9 133255935 missense variant G/A;T snv 4.1E-06; 0.12 0.010 1.000 1 2014 2014
dbSNP: rs12075
rs12075
ACKR1 ; CADM3-AS1
22 0.724 0.240 1 159205564 missense variant G/A snv 0.51 0.66 0.020 1.000 2 2013 2018
dbSNP: rs2228468
rs2228468
ACKR2 ; CYP8B1 ; KRBOX1
6 0.882 0.120 3 42865620 missense variant A/C;T snv 0.43; 8.3E-03 0.020 1.000 2 2013 2018
dbSNP: rs514049
rs514049
ADAM10
6 0.827 0.160 15 58750164 intron variant C/A snv 0.57 0.010 1.000 1 2018 2018
dbSNP: rs653765
rs653765
ADAM10
10 0.763 0.240 15 58749813 upstream gene variant T/C;G snv 0.45 0.010 1.000 1 2018 2018
dbSNP: rs12774070
rs12774070
ADAMTS14
4 0.925 0.120 10 70753879 missense variant C/A;G snv 0.23 0.19 0.010 1.000 1 2017 2017
dbSNP: rs61573157
rs61573157
ADAMTS14
6 0.882 0.160 10 70760503 missense variant C/T snv 8.6E-02 7.5E-02 0.010 1.000 1 2017 2017
dbSNP: rs1800624
rs1800624
AGER ; PBX2
33 0.658 0.480 6 32184610 upstream gene variant A/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs1130233
rs1130233
AKT1
13 0.742 0.480 14 104773557 synonymous variant C/T snv 0.30 0.23 0.010 1.000 1 2015 2015
dbSNP: rs767741751
rs767741751
ANGPT2 ; MCPH1
5 0.851 0.120 8 6562846 missense variant C/A snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs2064863
rs2064863
AURKA
4 0.925 0.120 20 56387716 intron variant T/A;C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs6024836
rs6024836
AURKA ; FAM210B
7 0.851 0.160 20 56369012 downstream gene variant G/A snv 0.42 0.010 1.000 1 2019 2019
dbSNP: rs11886868
rs11886868
BCL11A
12 0.752 0.280 2 60493111 intron variant C/T snv 0.65 0.010 1.000 1 2017 2017
dbSNP: rs4671393
rs4671393
BCL11A
11 0.790 0.400 2 60493816 intron variant A/C;G snv 0.010 1.000 1 2017 2017
dbSNP: rs1800477
rs1800477
BCL2
12 0.763 0.480 18 63318540 missense variant C/T snv 1.8E-02 4.9E-03 0.010 1.000 1 2017 2017
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.100 0.800 60 2004 2019
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 0.789 57 2004 2019
dbSNP: rs121913227
rs121913227
BRAF
31 0.653 0.320 7 140753336 missense variant AC/CT;TT mnv 0.020 1.000 2 2005 2019