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: rs16837641
rs16837641
1 2 205770145 intron variant G/A snv 0.29 0.700 1.000 2 2018 2018
dbSNP: rs16923189
rs16923189
1 9 5510644 5 prime UTR variant A/G snv 0.28 0.700 1.000 2 2018 2018
dbSNP: rs16933084
rs16933084
C1S
1 12 7064780 intron variant A/T snv 0.12 0.700 1.000 2 2018 2018
dbSNP: rs17288108
rs17288108
1 12 95738117 missense variant A/G snv 4.0E-06; 0.13 0.12 0.700 1.000 2 2018 2018
dbSNP: rs1780617
rs1780617
LBP
1 20 38345754 upstream gene variant G/A snv 0.77 0.700 1.000 2 2018 2018
dbSNP: rs1801274
rs1801274
46 0.597 0.800 1 161509955 missense variant A/C;G snv 4.0E-06; 0.48 0.700 1.000 2 2018 2018
dbSNP: rs1801690
rs1801690
6 0.925 0.120 17 66212167 missense variant C/G snv 4.8E-02 4.0E-02 0.700 1.000 2 2018 2018
dbSNP: rs1958078
rs1958078
4 14 69888141 intron variant A/C;G snv 0.700 1.000 2 2018 2018
dbSNP: rs2007272
rs2007272
1 1 206940410 intron variant G/C snv 0.35 0.700 1.000 2 2018 2018
dbSNP: rs2228243
rs2228243
3 1.000 0.080 3 186677324 missense variant A/G;T snv 0.20; 4.0E-06 0.700 1.000 2 2018 2019
dbSNP: rs2231495
rs2231495
1 22 17188416 missense variant T/A;C;G snv 8.0E-06; 0.34; 1.2E-05 0.700 1.000 2 2018 2018
dbSNP: rs2232710
rs2232710
2 1.000 0.040 14 94284149 missense variant T/C snv 8.1E-03 8.1E-03 0.700 1.000 2 2018 2018
dbSNP: rs2241384
rs2241384
1 19 54338671 missense variant A/G;T snv 0.700 1.000 2 2018 2018
dbSNP: rs2257167
rs2257167
7 0.807 0.200 21 33343393 missense variant G/C snv 0.18 0.16 0.700 1.000 2 2018 2018
dbSNP: rs2271893
rs2271893
3 0.925 0.040 2 96739703 intron variant G/A snv 0.23 0.700 1.000 2 2018 2018
dbSNP: rs2276543
rs2276543
1 1 183186170 upstream gene variant G/A snv 0.27 0.700 1.000 2 2018 2018
dbSNP: rs2305948
rs2305948
KDR
18 0.732 0.400 4 55113391 missense variant C/A;T snv 4.0E-06; 0.11 0.700 1.000 2 2018 2018
dbSNP: rs2569491
rs2569491
1 19 51081659 missense variant G/A snv 0.32 0.42 0.700 1.000 2 2018 2018
dbSNP: rs2670014
rs2670014
1 8 56464222 intron variant C/T snv 0.41 0.700 1.000 2 2018 2018
dbSNP: rs281439
rs281439
3 0.925 0.080 19 10289434 upstream gene variant G/C;T snv 0.700 1.000 2 2018 2018
dbSNP: rs288326
rs288326
9 0.807 0.120 2 182838608 missense variant G/A snv 8.2E-02 8.3E-02 0.700 1.000 2 2018 2019
dbSNP: rs3117602
rs3117602
1 4 73867169 upstream gene variant C/A snv 0.17 0.700 1.000 2 2018 2018
dbSNP: rs313829
rs313829
ASL
1 7 66087510 non coding transcript exon variant A/G snv 0.72 0.700 1.000 2 2018 2018
dbSNP: rs342702
rs342702
1 13 91770692 intron variant G/T snv 0.37 0.700 1.000 2 2018 2018
dbSNP: rs35897051
rs35897051
MPO
3 1.000 0.080 17 58270865 splice acceptor variant T/G snv 4.4E-03 4.6E-03 0.700 1.000 2 2018 2018