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: rs120074187
rs120074187
3 0.882 0.120 11 2572963 missense variant G/A snv 4.8E-05 2.1E-05 0.700 0
dbSNP: rs1554108172
rs1554108172
DSP
2 0.925 0.080 6 7579983 stop gained G/T snv 0.700 0
dbSNP: rs766265889
rs766265889
11 0.827 0.240 2 178535508 stop gained G/A;T snv 8.0E-06; 4.0E-06 0.700 0
dbSNP: rs3745297
rs3745297
HRC
10 0.790 0.120 19 49154952 missense variant A/C snv 0.41 0.38 0.050 1.000 5 2008 2017
dbSNP: rs3766871
rs3766871
9 0.790 0.240 1 237614784 missense variant G/A;T snv 4.0E-02 0.020 1.000 2 2010 2015
dbSNP: rs7626962
rs7626962
10 0.790 0.080 3 38579416 missense variant G/A;T snv 1.6E-05; 5.9E-03 0.020 1.000 2 2002 2011
dbSNP: rs1042714
rs1042714
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.010 1.000 1 2008 2008
dbSNP: rs104894503
rs104894503
9 0.776 0.160 15 63060899 missense variant G/A snv 1.6E-05 2.8E-05 0.010 1.000 1 2004 2004
dbSNP: rs104894580
rs104894580
7 0.790 0.240 17 70175238 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs104894584
rs104894584
5 0.851 0.120 17 70175553 missense variant G/A snv 0.010 1.000 1 2012 2012
dbSNP: rs1049194905
rs1049194905
2 0.925 0.080 3 38604063 synonymous variant A/G snv 0.010 1.000 1 2020 2020
dbSNP: rs120074192
rs120074192
10 0.763 0.120 11 2527959 missense variant A/G snv 0.010 1.000 1 2018 2018
dbSNP: rs121918600
rs121918600
5 0.882 0.080 1 237791441 missense variant C/T snv 0.010 1.000 1 2013 2013
dbSNP: rs121918604
rs121918604
3 0.882 0.080 1 237798037 missense variant G/A;T snv 1.7E-05 0.010 1.000 1 2004 2004
dbSNP: rs1237080661
rs1237080661
2 0.925 0.080 3 38604780 stop gained A/G;T snv 2.8E-05 0.010 1.000 1 2020 2020
dbSNP: rs1266360671
rs1266360671
3 0.925 0.080 1 237270518 missense variant T/C snv 4.7E-06 0.010 1.000 1 2015 2015
dbSNP: rs1355262401
rs1355262401
2 1.000 0.080 6 121447691 missense variant T/G snv 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs137854600
rs137854600
6 0.807 0.120 3 38551504 missense variant C/A;T snv 0.010 1.000 1 2004 2004
dbSNP: rs1801253
rs1801253
34 0.683 0.440 10 114045297 missense variant G/C snv 0.74 0.69 0.010 1.000 1 2008 2008
dbSNP: rs1805120
rs1805120
3 0.882 0.080 7 150952443 synonymous variant G/A snv 0.30 0.26 0.010 1.000 1 2020 2020
dbSNP: rs1805127
rs1805127
17 0.732 0.240 21 34449523 missense variant T/C snv 0.64 2.0E-04 0.010 1.000 1 2016 2016
dbSNP: rs184934308
rs184934308
2 0.925 0.080 3 38575342 synonymous variant G/A snv 4.1E-04 9.1E-05 0.010 1.000 1 2020 2020
dbSNP: rs1860561
rs1860561
5 0.851 0.080 12 110345436 intron variant G/A snv 0.19 0.010 1.000 1 2013 2013
dbSNP: rs192749597
rs192749597
3 0.882 0.080 12 2679712 missense variant C/T snv 9.2E-04 3.5E-03 0.010 1.000 1 2018 2018
dbSNP: rs199473605
rs199473605
7 0.851 0.120 3 38560374 missense variant C/G;T snv 4.8E-05; 4.0E-06 0.010 1.000 1 2009 2009