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: rs1048328
rs1048328
1 19 51024108 missense variant G/A;C snv 6.0E-02; 4.2E-06 0.700 1.000 2 2018 2018
dbSNP: rs1050239
rs1050239
1 11 6394233 missense variant G/A;C snv 0.19 0.700 1.000 2 2018 2019
dbSNP: rs111577916
rs111577916
1 11 126201454 downstream gene variant G/A;T snv 0.700 1.000 2 2018 2018
dbSNP: rs11555096
rs11555096
FAH
2 1.000 15 80180184 missense variant C/A;T snv 1.7E-02 0.700 1.000 2 2018 2018
dbSNP: rs11558819
rs11558819
1 21 44236891 missense variant C/T snv 0.27 0.700 1.000 2 2018 2018
dbSNP: rs13318853
rs13318853
1 3 148844612 intron variant G/A;T snv 0.22; 4.0E-06 0.700 1.000 2 2018 2018
dbSNP: rs138616686
rs138616686
1 6 3003736 5 prime UTR variant A/C;G snv 0.700 1.000 2 2018 2018
dbSNP: rs15881
rs15881
1 8 21693256 3 prime UTR variant A/C;G;T snv 0.48; 1.2E-05 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: rs1958078
rs1958078
4 14 69888141 intron variant A/C;G snv 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: rs2241384
rs2241384
1 19 54338671 missense variant A/G;T snv 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: rs281439
rs281439
3 0.925 0.080 19 10289434 upstream gene variant G/C;T snv 0.700 1.000 2 2018 2018
dbSNP: rs373032
rs373032
1 19 54279520 missense variant A/G;T snv 0.700 1.000 2 2018 2018
dbSNP: rs4987358
rs4987358
1 1 169696410 intron variant G/A;T snv 0.700 1.000 2 2018 2018
dbSNP: rs4988235
rs4988235
19 0.752 0.400 2 135851076 intron variant G/A;C snv 0.700 1.000 2 2018 2018
dbSNP: rs507666
rs507666
ABO
8 1.000 0.040 9 133273983 intron variant A/G snv 0.700 1.000 2 2018 2019
dbSNP: rs61739314
rs61739314
1 20 41361737 missense variant G/C;T snv 3.3E-02; 4.0E-06 0.700 1.000 2 2018 2018
dbSNP: rs678
rs678
2 1.000 0.040 3 52786965 missense variant A/G;T snv 0.36 0.700 1.000 2 2018 2018
dbSNP: rs68066031
rs68066031
1 2 224015781 intron variant T/A;C snv 0.700 1.000 2 2018 2018
dbSNP: rs71354995
rs71354995
1 19 38301201 intron variant A/C;G;T snv 0.700 1.000 2 2018 2018
dbSNP: rs729654
rs729654
1 3 43106160 upstream gene variant C/G;T snv 0.700 1.000 2 2018 2018
dbSNP: rs7681694
rs7681694
1 4 87541577 regulatory region variant G/A;T snv 0.700 1.000 2 2018 2018