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: rs17830558
rs17830558
1 1.000 0.120 2 160021853 intron variant T/G snv 0.39 0.710 1.000 1 2017 2017
dbSNP: rs3024877
rs3024877
1 1.000 0.120 2 191040163 intron variant C/T snv 0.35 0.010 1.000 1 2011 2011
dbSNP: rs3024908
rs3024908
1 1.000 0.120 2 191029415 intron variant T/C snv 9.7E-02 0.010 1.000 1 2011 2011
dbSNP: rs3024912
rs3024912
2 0.925 0.120 2 191028361 intron variant A/C snv 0.29 0.010 1.000 1 2011 2011
dbSNP: rs35771982
rs35771982
2 0.925 0.120 2 160028907 missense variant G/C snv 0.39 0.35 0.010 1.000 1 2014 2014
dbSNP: rs4326755
rs4326755
1 1.000 0.120 11 101578627 intron variant G/A snv 0.48 0.010 < 0.001 1 2010 2010
dbSNP: rs9267522
rs9267522
1 1.000 0.120 6 31635993 synonymous variant A/G snv 0.700 1.000 1 2011 2011
dbSNP: rs9272729
rs9272729
1 1.000 0.120 6 32641817 intron variant G/A;C snv 0.710 1.000 1 2017 2017
dbSNP: rs4664308
rs4664308
4 0.851 0.160 2 160060986 intron variant A/G snv 0.30 0.800 1.000 1 2011 2011
dbSNP: rs3096697
rs3096697
3 0.882 0.200 6 32166733 missense variant G/A snv 0.16 0.18 0.700 1.000 1 2011 2011
dbSNP: rs1265159
rs1265159
3 0.882 0.240 6 31172270 intron variant G/A snv 0.21 0.700 1.000 1 2011 2011
dbSNP: rs3134945
rs3134945
6 0.827 0.240 6 32178715 intron variant C/A snv 0.18 0.700 1.000 1 2011 2011
dbSNP: rs3134792
rs3134792
4 0.851 0.280 6 31344549 intron variant T/G snv 8.8E-02 0.700 1.000 1 2011 2011
dbSNP: rs2233956
rs2233956
5 0.827 0.320 6 31113428 upstream gene variant T/C snv 0.12 0.700 1.000 1 2011 2011
dbSNP: rs352139
rs352139
18 0.732 0.320 3 52224356 intron variant T/C snv 0.51 0.54 0.010 1.000 1 2013 2013
dbSNP: rs1480380
rs1480380
10 0.763 0.360 6 32945469 intron variant C/T snv 0.11 0.700 1.000 1 2011 2011
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 2011 2011
dbSNP: rs3129939
rs3129939
5 0.827 0.360 6 32368989 intron variant A/G snv 0.14 0.700 1.000 1 2011 2011
dbSNP: rs3130544
rs3130544
10 0.807 0.360 6 31090563 intergenic variant C/A snv 7.4E-02 0.700 1.000 1 2011 2011
dbSNP: rs3130564
rs3130564
7 0.790 0.360 6 31133897 intron variant C/T snv 0.14 0.700 1.000 1 2011 2011
dbSNP: rs3130618
rs3130618
7 0.827 0.360 6 31664357 missense variant C/A;T snv 0.15; 4.0E-06 0.700 1.000 1 2011 2011
dbSNP: rs3132580
rs3132580
7 0.790 0.360 6 30952347 missense variant G/A snv 8.0E-02 9.3E-02 0.700 1.000 1 2011 2011
dbSNP: rs7750641
rs7750641
6 0.807 0.360 6 31161533 missense variant C/T snv 7.0E-02 7.6E-02 0.700 1.000 1 2011 2011
dbSNP: rs1980493
rs1980493
10 0.776 0.400 6 32395438 intron variant T/C snv 0.13 0.700 1.000 1 2011 2011
dbSNP: rs7775397
rs7775397
7 0.790 0.400 6 32293475 missense variant T/G snv 6.0E-02 6.4E-02 0.700 1.000 1 2011 2011