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: rs2233278
rs2233278
2 0.925 0.040 5 151087628 5 prime UTR variant G/C;T snv 4.8E-02 0.700 1.000 2 2015 2018
dbSNP: rs4845454
rs4845454
2 0.925 0.040 1 152619708 downstream gene variant C/A;T snv 0.710 1.000 2 2015 2018
dbSNP: rs1010824
rs1010824
1 1.000 0.040 8 107239685 intergenic variant G/A snv 0.14 0.010 1.000 1 2015 2015
dbSNP: rs1020760
rs1020760
2 0.925 0.040 4 102593288 non coding transcript exon variant C/G snv 0.42 0.010 1.000 1 2016 2016
dbSNP: rs1056198
rs1056198
2 0.925 0.040 20 49939692 intron variant C/T snv 0.34 0.700 1.000 1 2015 2015
dbSNP: rs10754557
rs10754557
1 1.000 0.040 1 247435930 intron variant G/A snv 0.59 0.51 0.010 1.000 1 2018 2018
dbSNP: rs11652075
rs11652075
3 0.882 0.040 17 80205094 missense variant C/T snv 0.41 0.40 0.010 1.000 1 2016 2016
dbSNP: rs12445568
rs12445568
2 0.925 0.040 16 30993491 splice region variant T/C snv 0.39 0.38 0.700 1.000 1 2015 2015
dbSNP: rs12489120
rs12489120
1 1.000 0.040 3 4978778 intron variant C/A;G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs12884468
rs12884468
2 0.925 0.040 14 35383280 downstream gene variant T/C snv 0.47 0.700 1.000 1 2015 2015
dbSNP: rs17716942
rs17716942
2 0.925 0.040 2 162404181 intron variant T/C snv 9.6E-02 0.700 1.000 1 2015 2015
dbSNP: rs1868554
rs1868554
1 1.000 0.040 8 6529226 intron variant T/A;C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs201285077
rs201285077
3 0.882 0.040 17 80198545 missense variant C/G;T snv 4.0E-06; 2.3E-04 3.1E-04 0.010 1.000 1 2016 2016
dbSNP: rs2066819
rs2066819
2 0.925 0.040 12 56356420 intron variant C/T snv 4.9E-02 4.5E-02 0.700 1.000 1 2015 2015
dbSNP: rs2675662
rs2675662
2 0.925 0.040 10 73839369 intron variant A/G snv 0.55 0.700 1.000 1 2015 2015
dbSNP: rs2675669
rs2675669
1 1.000 0.040 10 73894114 intergenic variant C/T snv 0.55 0.700 1.000 1 2015 2015
dbSNP: rs27432
rs27432
2 0.925 0.040 5 96783569 intron variant A/C;G snv 0.700 1.000 1 2015 2015
dbSNP: rs3739390
rs3739390
1 1.000 0.040 8 6562969 5 prime UTR variant C/G snv 6.7E-02 5.9E-02 0.010 1.000 1 2015 2015
dbSNP: rs3802826
rs3802826
2 0.925 0.040 11 128536543 non coding transcript exon variant A/G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs4406273
rs4406273
2 0.925 0.040 6 31298313 intron variant G/A snv 8.6E-02 0.700 1.000 1 2015 2015
dbSNP: rs4685408
rs4685408
2 0.925 0.040 3 16954543 intron variant G/A snv 0.56 0.700 1.000 1 2015 2015
dbSNP: rs4712528
rs4712528
1 1.000 0.040 6 20678199 intron variant G/C;T snv 0.700 1.000 1 2015 2015
dbSNP: rs4810482
rs4810482
1 1.000 0.040 20 46005911 upstream gene variant T/C snv 0.45 0.010 1.000 1 2015 2015
dbSNP: rs518604
rs518604
1 1.000 0.040 11 104998504 intron variant G/A snv 0.58 0.010 1.000 1 2015 2015
dbSNP: rs523104
rs523104
1 1.000 0.040 11 104998981 missense variant G/C;T snv 0.46; 4.0E-06 0.010 1.000 1 2015 2015