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: rs12154141
rs12154141
1 6 62460168 downstream gene variant A/C snv 0.20 0.700 1.000 1 2017 2017
dbSNP: rs2213585
rs2213585
2 1.000 0.040 6 32445373 downstream gene variant G/A snv 0.61 0.700 1.000 1 2013 2013
dbSNP: rs2213586
rs2213586
2 1.000 0.040 6 32445317 downstream gene variant A/G snv 0.61 0.700 1.000 1 2013 2013
dbSNP: rs2227139
rs2227139
4 0.925 0.160 6 32445682 downstream gene variant G/A snv 0.61 0.700 1.000 1 2013 2013
dbSNP: rs2395182
rs2395182
5 0.851 0.280 6 32445540 downstream gene variant G/T snv 0.76 0.700 1.000 1 2013 2013
dbSNP: rs28366298
rs28366298
3 0.925 0.120 6 32593082 upstream gene variant A/C;T snv 0.700 1.000 1 2013 2013
dbSNP: rs6901541
rs6901541
2 1.000 0.120 6 32474484 upstream gene variant T/C;G snv 0.700 1.000 1 2013 2013
dbSNP: rs10947261
rs10947261
4 0.882 0.240 6 32405455 splice region variant G/T snv 0.11 0.700 1.000 1 2013 2013
dbSNP: rs138117677
rs138117677
1 16 3348899 TF binding site variant GGGACT/- delins 2.8E-02 0.700 1.000 1 2017 2017
dbSNP: rs8084
rs8084
2 1.000 0.120 6 32443258 splice acceptor variant A/C;T snv 0.61; 8.1E-06 0.700 1.000 1 2013 2013
dbSNP: rs4919510
rs4919510
32 0.641 0.520 10 100975021 mature miRNA variant C/G snv 0.27 0.27 0.010 1.000 1 2015 2015
dbSNP: rs7194
rs7194
7 0.827 0.280 6 32444703 3 prime UTR variant G/A snv 0.61 0.700 1.000 1 2013 2013
dbSNP: rs7195
rs7195
2 1.000 0.040 6 32444762 3 prime UTR variant A/G snv 0.61 0.700 1.000 1 2013 2013
dbSNP: rs1800871
rs1800871
108 0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69 0.010 1.000 1 2012 2012
dbSNP: rs3117583
rs3117583
3 0.925 0.200 6 31651799 5 prime UTR variant A/G snv 0.14 0.17 0.700 1.000 1 2013 2013
dbSNP: rs1062630
rs1062630
1 6 31170330 synonymous variant G/A snv 0.18 0.22 0.700 1.000 1 2017 2017
dbSNP: rs11229
rs11229
6 0.851 0.280 6 31635993 synonymous variant A/G snv 0.14 0.17 0.700 1.000 1 2013 2013
dbSNP: rs200655768
rs200655768
1 2 178711222 synonymous variant G/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs28362683
rs28362683
2 1.000 0.040 6 32405186 synonymous variant G/A snv 0.12 0.10 0.700 1.000 1 2013 2013
dbSNP: rs3130626
rs3130626
2 1.000 0.120 6 31630712 synonymous variant A/G snv 0.15 0.17 0.700 1.000 1 2013 2013
dbSNP: rs10947262
rs10947262
3 0.925 0.040 6 32405535 non coding transcript exon variant C/T snv 0.12 0.700 1.000 1 2013 2013
dbSNP: rs204994
rs204994
4 0.925 0.120 6 32187221 non coding transcript exon variant C/T snv 0.18 0.21 0.700 1.000 1 2013 2013
dbSNP: rs204995
rs204995
2 1.000 0.120 6 32186508 non coding transcript exon variant A/G snv 0.21 0.27 0.700 1.000 1 2013 2013
dbSNP: rs2854275
rs2854275
4 0.925 0.120 6 32660651 non coding transcript exon variant C/A snv 9.6E-02 0.800 1.000 1 2013 2013
dbSNP: rs3115663
rs3115663
7 0.827 0.360 6 31634066 non coding transcript exon variant T/C snv 0.17 0.700 1.000 1 2013 2013