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: rs10491322
rs10491322
3 0.925 0.120 5 134194449 3 prime UTR variant A/G snv 9.5E-02 0.010 1.000 1 2018 2018
dbSNP: rs11568821
rs11568821
10 0.827 0.200 2 241851760 intron variant C/G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs11981433
rs11981433
4 0.882 0.240 7 95425028 intron variant T/C;G snv 0.010 < 0.001 1 2011 2011
dbSNP: rs1476330207
rs1476330207
1 19 49660781 frameshift variant G/- delins 4.1E-06 0.010 1.000 1 2018 2018
dbSNP: rs17026688
rs17026688
2 1.000 0.040 3 30845325 intron variant C/T snv 9.3E-03 0.010 1.000 1 2019 2019
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: rs17876205
rs17876205
1 7 95403792 downstream gene variant C/G snv 1.4E-02 0.010 < 0.001 1 2011 2011
dbSNP: rs2292832
rs2292832
46 0.605 0.640 2 240456086 non coding transcript exon variant T/A;C snv 0.59 0.010 1.000 1 2019 2019
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: rs756207760
rs756207760
2 2 136115275 missense variant C/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 1999 1999
dbSNP: rs10460003
rs10460003
2 18 12747013 intron variant C/T snv 0.15 0.700 1.000 1 2011 2011
dbSNP: rs10488631
rs10488631
13 0.742 0.280 7 128954129 upstream gene variant T/C snv 9.0E-02 0.700 1.000 1 2011 2011
dbSNP: rs10752747
rs10752747
2 1 2593476 intron variant G/T snv 0.41 0.700 1.000 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: rs10892258
rs10892258
4 0.925 0.120 11 118709156 intron variant G/A snv 0.19 0.700 1.000 1 2011 2011
dbSNP: rs10892286
rs10892286
2 11 118771376 intron variant A/C snv 0.17 0.700 1.000 1 2011 2011
dbSNP: rs10903122
rs10903122
5 0.882 0.200 1 24977085 intergenic variant A/G snv 0.56 0.700 1.000 1 2011 2011
dbSNP: rs10932019
rs10932019
2 2 203764087 downstream gene variant G/A;C snv 0.700 1.000 1 2011 2011
dbSNP: rs11043097
rs11043097
2 11 11114248 intron variant T/C snv 0.15 0.700 1.000 1 2011 2011
dbSNP: rs11221332
rs11221332
13 0.763 0.280 11 128511079 intron variant C/A;T snv 0.700 1.000 1 2011 2011
dbSNP: rs11586238
rs11586238
4 0.925 0.160 1 116720516 regulatory region variant C/G snv 0.19 0.700 1.000 1 2011 2011
dbSNP: rs11676922
rs11676922
4 0.925 0.160 2 100190478 intron variant T/A snv 0.51 0.700 1.000 1 2011 2011
dbSNP: rs11712165
rs11712165
5 0.882 0.200 3 119399949 intron variant T/G snv 0.30 0.700 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: rs12138909
rs12138909
2 1 2607299 intron variant C/T snv 0.11 0.700 1.000 1 2011 2011