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: rs2922994
rs2922994
1 1.000 0.120 6 31368124 intron variant A/G snv 9.0E-02 0.710 1.000 1 2015 2015
dbSNP: rs9461741
rs9461741
1 1.000 0.120 6 32402810 intron variant G/C snv 3.8E-02 0.710 1.000 1 2015 2015
dbSNP: rs1107345
rs1107345
2 0.925 0.160 10 6045332 intron variant G/T snv 0.18 0.700 1.000 1 2019 2019
dbSNP: rs1250550
rs1250550
5 0.851 0.240 10 79300560 intron variant C/A snv 0.27 0.700 1.000 1 2019 2019
dbSNP: rs1323292
rs1323292
3 0.882 0.160 1 192571891 intron variant G/A snv 0.86 0.700 1.000 1 2019 2019
dbSNP: rs1364229
rs1364229
2 0.925 0.200 16 62594871 upstream gene variant T/C snv 0.12 0.700 1.000 1 2019 2019
dbSNP: rs1439112
rs1439112
4 0.851 0.160 2 134305027 intron variant G/A snv 0.61 0.700 1.000 1 2019 2019
dbSNP: rs1444766
rs1444766
3 0.882 0.160 3 124206424 intron variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs16947122
rs16947122
2 0.925 0.200 12 116928726 intron variant C/T snv 7.3E-02 0.700 1.000 1 2019 2019
dbSNP: rs2425752
rs2425752
4 0.851 0.160 20 46073481 intron variant T/C snv 0.79 0.700 1.000 1 2019 2019
dbSNP: rs2777899
rs2777899
4 0.851 0.160 17 59755030 intron variant T/A;G snv 0.700 1.000 1 2019 2019
dbSNP: rs2941509
rs2941509
2 0.925 0.160 17 39764941 3 prime UTR variant T/C snv 0.91 0.700 1.000 1 2019 2019
dbSNP: rs6062314
rs6062314
2 0.925 0.160 20 63778360 intron variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs7382170
rs7382170
2 0.925 0.160 6 16970739 intergenic variant C/A snv 0.37 0.700 1.000 1 2019 2019
dbSNP: rs8021741
rs8021741
2 0.925 0.160 14 75556057 intergenic variant T/G snv 0.30 0.700 1.000 1 2019 2019
dbSNP: rs387907272
rs387907272
73 0.572 0.520 3 38141150 stop lost T/C snv 5.2E-05 7.0E-06 0.060 1.000 6 2013 2019
dbSNP: rs1494555
rs1494555
8 0.790 0.120 5 35871088 missense variant G/A snv 0.64 0.72 0.010 1.000 1 2011 2011
dbSNP: rs20541
rs20541
52 0.585 0.720 5 132660272 missense variant A/G snv 0.72 0.77 0.010 1.000 1 2011 2011
dbSNP: rs344550
rs344550
C3
1 1.000 0.120 19 6682942 non coding transcript exon variant C/G snv 0.64 0.010 1.000 1 2012 2012
dbSNP: rs3804100
rs3804100
36 0.633 0.720 4 153704257 synonymous variant T/C snv 9.0E-02 6.7E-02 0.010 1.000 1 2009 2009
dbSNP: rs497309
rs497309
5 0.882 0.240 6 31924707 intron variant A/C;G snv 0.010 1.000 1 2012 2012
dbSNP: rs568408
rs568408
29 0.649 0.600 3 159995680 3 prime UTR variant G/A snv 0.16 0.010 1.000 1 2011 2011
dbSNP: rs77375493
rs77375493
187 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1.000 1 2011 2011
dbSNP: rs928883
rs928883
3 0.882 0.160 21 25571713 intron variant A/G snv 0.83 0.010 1.000 1 2012 2012
dbSNP: rs9808753
rs9808753
17 0.701 0.400 21 33415005 missense variant A/G snv 0.20 0.18 0.010 1.000 1 2011 2011