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: rs17876183
rs17876183
1 7 95434956 missense variant C/T snv 1.2E-02 1.4E-02 0.010 < 0.001 1 2011 2011
dbSNP: rs11981433
rs11981433
4 0.882 0.240 7 95425028 intron variant T/C;G snv 0.010 < 0.001 1 2011 2011
dbSNP: rs17876205
rs17876205
1 7 95403792 downstream gene variant C/G snv 1.4E-02 0.010 < 0.001 1 2011 2011
dbSNP: rs10806425
rs10806425
6 0.851 0.280 6 90216893 intron variant C/A snv 0.33 0.700 1.000 1 2011 2011
dbSNP: rs1250552
rs1250552
5 0.882 0.200 10 79298270 intron variant A/C;G snv 0.700 1.000 1 2011 2011
dbSNP: rs17035378
rs17035378
5 0.882 0.200 2 68371823 intron variant T/A;C snv 0.700 1.000 1 2011 2011
dbSNP: rs1876518
rs1876518
2 2 65381775 intron variant C/T snv 0.45 0.800 1.000 1 2011 2011
dbSNP: rs1194849
rs1194849
2 2 65379519 intron variant T/C snv 0.49 0.700 1.000 1 2011 2011
dbSNP: rs934734
rs934734
4 0.925 0.160 2 65368452 intron variant G/A;T snv 0.54 0.700 1.000 1 2011 2011
dbSNP: rs4750316
rs4750316
5 0.882 0.160 10 6351298 non coding transcript exon variant C/G;T snv 0.700 1.000 1 2011 2011
dbSNP: rs13003464
rs13003464
7 0.827 0.200 2 60959694 intron variant A/G snv 0.50 0.700 1.000 1 2011 2011
dbSNP: rs6706689
rs6706689
2 2 60943910 intron variant A/G snv 0.48 0.700 1.000 1 2011 2011
dbSNP: rs6726160
rs6726160
3 1.000 0.080 2 60937594 non coding transcript exon variant T/G snv 0.47 0.700 1.000 1 2011 2011
dbSNP: rs13031237
rs13031237
REL
3 1.000 0.120 2 60908994 intron variant G/T snv 0.25 0.700 1.000 1 2011 2011
dbSNP: rs706778
rs706778
19 0.695 0.320 10 6056986 intron variant C/T snv 0.46 0.700 1.000 1 2011 2011
dbSNP: rs13315591
rs13315591
4 0.925 0.160 3 58571114 intron variant T/C snv 0.15 0.700 1.000 1 2011 2011
dbSNP: rs1678542
rs1678542
9 0.790 0.320 12 57574932 intron variant C/G snv 0.42 0.700 1.000 1 2011 2011
dbSNP: rs1020388
rs1020388
2 5 56264200 upstream gene variant T/G snv 0.34 0.800 1.000 1 2011 2011
dbSNP: rs6859219
rs6859219
4 0.925 0.160 5 56142753 intron variant C/A snv 0.20 0.700 1.000 1 2011 2011
dbSNP: rs352140
rs352140
42 0.630 0.680 3 52222681 synonymous variant C/A;G;T snv 2.0E-05; 0.49 0.010 1.000 1 2013 2013
dbSNP: rs1476330207
rs1476330207
1 19 49660781 frameshift variant G/- delins 4.1E-06 0.010 1.000 1 2018 2018
dbSNP: rs13098911
rs13098911
5 0.882 0.200 3 46193709 intron variant C/G;T snv 0.700 1.000 1 2011 2011
dbSNP: rs4810485
rs4810485
16 0.732 0.480 20 46119308 intron variant T/A;G snv 0.700 1.000 1 2011 2011
dbSNP: rs4819388
rs4819388
9 0.790 0.240 21 44227538 3 prime UTR variant T/C snv 0.700 1.000 1 2011 2011
dbSNP: rs11203203
rs11203203
9 0.807 0.240 21 42416077 intron variant G/A snv 0.28 0.800 1.000 1 2011 2011