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: rs11920109
rs11920109
1 1.000 0.120 3 7170999 intron variant T/C snv 0.35 0.010 1.000 1 2020 2020
dbSNP: rs11928865
rs11928865
2 1.000 0.120 3 7114015 intron variant T/A;G snv 0.010 1.000 1 2020 2020
dbSNP: rs3774937
rs3774937
9 0.776 0.280 4 102513096 intron variant T/C snv 0.26 0.010 1.000 1 2014 2014
dbSNP: rs4648011
rs4648011
1 1.000 0.120 4 102554287 intron variant G/T snv 0.61 0.010 1.000 1 2014 2014
dbSNP: rs104894396
rs104894396
28 0.672 0.400 13 20189511 stop gained C/T snv 5.8E-04 1.1E-04 0.010 1.000 1 2016 2016
dbSNP: rs104895564
rs104895564
3 0.925 0.200 19 53810809 stop gained G/A snv 1.5E-04 4.3E-04 0.010 1.000 1 2019 2019
dbSNP: rs1135401743
rs1135401743
11 0.776 0.320 2 42769785 stop gained C/A;T snv 4.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs121908361
rs121908361
3 0.882 0.160 7 107689156 stop gained A/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs397514588
rs397514588
2 0.925 0.120 12 80229341 stop gained C/T snv 3.8E-05 2.8E-05 0.010 1.000 1 2012 2012
dbSNP: rs794726869
rs794726869
2 0.925 0.120 2 197705955 stop gained C/T snv 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs876657776
rs876657776
2 0.925 0.160 5 141524167 stop gained G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs1302739538
rs1302739538
3 0.882 0.120 13 20189066 stop gained C/G;T snv 0.700 0
dbSNP: rs144948296
rs144948296
3 0.925 0.120 15 43604750 stop gained G/A;C snv 1.8E-04 0.700 0
dbSNP: rs397516875
rs397516875
2 0.925 0.120 13 20189197 stop gained C/A;T snv 6.4E-05 0.700 0
dbSNP: rs549556142
rs549556142
2 0.925 0.120 1 100484347 stop gained C/A;T snv 1.6E-04; 4.1E-06 0.700 0
dbSNP: rs765379963
rs765379963
19 0.701 0.520 1 165743172 stop gained G/A snv 1.2E-05 2.1E-05 0.700 0
dbSNP: rs771409809
rs771409809
19 0.732 0.480 4 6301794 stop gained C/T snv 6.0E-05 7.0E-06 0.700 0
dbSNP: rs876661408
rs876661408
2 0.925 0.120 1 100484440 stop gained C/T snv 4.3E-06 0.700 0
dbSNP: rs72474224
rs72474224
18 0.708 0.440 13 20189473 missense variant C/A;T snv 7.7E-03 0.050 1.000 5 2002 2013
dbSNP: rs35887622
rs35887622
8 0.790 0.200 13 20189481 missense variant A/C;G snv 8.7E-03 0.040 0.750 4 2000 2012
dbSNP: rs80356529
rs80356529
9 0.827 0.240 3 193643996 missense variant G/A;C snv 0.030 1.000 3 2005 2011
dbSNP: rs121912557
rs121912557
4 0.882 0.120 6 75857198 missense variant G/A snv 0.020 1.000 2 2004 2019
dbSNP: rs10258719
rs10258719
2 0.925 0.280 7 138771243 missense variant A/C;G;T snv 0.69 0.010 1.000 1 2014 2014
dbSNP: rs104894334
rs104894334
4 0.851 0.200 12 49954233 missense variant G/A snv 5.3E-05 7.7E-05 0.010 1.000 1 2000 2000
dbSNP: rs104894403
rs104894403
7 0.851 0.240 13 20189386 missense variant C/A;G;T snv 4.0E-06 0.710 1.000 1 1999 1999