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: rs6976
rs6976
4 0.851 0.080 3 52694788 3 prime UTR variant C/T snv 0.38 0.33 0.710 1.000 3 2015 2019
dbSNP: rs9350591
rs9350591
2 0.925 0.040 6 75531811 intergenic variant C/A;T snv 0.12 0.710 1.000 3 2015 2019
dbSNP: rs10492367
rs10492367
3 0.882 0.040 12 27862037 regulatory region variant G/T snv 0.12 0.700 1.000 2 2018 2019
dbSNP: rs10896015
rs10896015
1 1.000 0.040 11 65556254 intron variant G/A snv 0.26 0.700 1.000 2 2018 2019
dbSNP: rs10948172
rs10948172
3 0.882 0.040 6 44809954 intron variant A/G snv 0.27 0.700 1.000 2 2018 2019
dbSNP: rs12209223
rs12209223
2 1.000 0.040 6 75454873 intron variant C/A snv 7.3E-02 0.700 1.000 2 2018 2019
dbSNP: rs12901372
rs12901372
1 1.000 0.040 15 67078168 intron variant C/A;G snv 0.700 1.000 2 2018 2019
dbSNP: rs2785988
rs2785988
2 0.925 0.040 1 219570796 intergenic variant C/A snv 0.23 0.700 1.000 2 2018 2019
dbSNP: rs4252548
rs4252548
4 1.000 0.040 19 55368304 missense variant C/T snv 2.1E-02 1.8E-02 0.710 1.000 2 2018 2019
dbSNP: rs4836732
rs4836732
2 1.000 0.040 9 116504416 intron variant C/T snv 0.49 0.700 1.000 2 2018 2019
dbSNP: rs7222178
rs7222178
1 1.000 0.040 17 61574921 TF binding site variant T/A snv 0.26 0.700 1.000 2 2018 2019
dbSNP: rs763780
rs763780
87 0.531 0.720 6 52236941 missense variant T/C snv 6.7E-02 6.6E-02 0.020 1.000 2 2018 2019
dbSNP: rs10758594
rs10758594
2 0.925 0.040 9 4295583 intron variant A/G snv 0.45 0.700 1.000 1 2019 2019
dbSNP: rs11059094
rs11059094
1 1.000 0.040 12 122122290 intron variant C/T snv 0.51 0.700 1.000 1 2019 2019
dbSNP: rs11105466
rs11105466
2 0.925 0.040 12 89933142 intron variant G/A snv 0.37 0.700 1.000 1 2019 2019
dbSNP: rs11456119
rs11456119
2 0.925 0.040 7 96089185 intron variant A/-;AA;AAA delins 0.700 1.000 1 2019 2019
dbSNP: rs115740542
rs115740542
2 0.925 0.040 6 26123274 intron variant T/C snv 3.6E-02 0.700 1.000 1 2019 2019
dbSNP: rs11583641
rs11583641
1 1.000 0.040 1 183937111 3 prime UTR variant C/A;T snv 0.22 0.700 1.000 1 2019 2019
dbSNP: rs11732213
rs11732213
2 0.925 0.040 4 1702517 intron variant T/C snv 0.16 0.700 1.000 1 2019 2019
dbSNP: rs11997261
rs11997261
2 0.925 0.040 8 8666851 intron variant T/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs12040949
rs12040949
1 1.000 0.040 1 150474986 3 prime UTR variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs12193102
rs12193102
2 0.925 0.040 6 45177665 intron variant C/G snv 0.33 0.700 1.000 1 2019 2019
dbSNP: rs12470967
rs12470967
2 0.925 0.040 2 191807255 intron variant A/G snv 0.57 0.700 1.000 1 2019 2019
dbSNP: rs1330349
rs1330349
1 1.000 0.040 9 115078463 intron variant G/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs17659798
rs17659798
2 0.925 0.040 11 28853450 intron variant A/C snv 0.24 0.700 1.000 1 2019 2019