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: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.010 1.000 1 2013 2013
dbSNP: rs28934576
rs28934576
78 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.700 0
dbSNP: rs11540652
rs11540652
57 0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 0.700 0
dbSNP: rs28934578
rs28934578
47 0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 0.700 0
dbSNP: rs55832599
rs55832599
18 0.716 0.360 17 7673821 missense variant G/A snv 0.700 0
dbSNP: rs1131691003
rs1131691003
12 0.752 0.360 17 7676381 splice donor variant C/A;G snv 0.700 0
dbSNP: rs1131691042
rs1131691042
12 0.752 0.360 17 7675052 splice donor variant C/T snv 0.700 0
dbSNP: rs314276
rs314276
10 0.807 0.280 6 104960124 intron variant A/C snv 0.65 0.010 1.000 1 2017 2017
dbSNP: rs221634
rs221634
4 0.851 0.080 6 105080213 3 prime UTR variant T/A snv 0.52 0.010 1.000 1 2017 2017
dbSNP: rs773378963
rs773378963
2 0.925 0.080 12 57013599 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs863223301
rs863223301
2 0.925 0.080 17 7675130 frameshift variant -/CCATGGC delins 0.700 0
dbSNP: rs118000887
rs118000887
1 1.000 0.080 6 105078626 missense variant A/G snv 3.5E-03 3.8E-03 0.010 1.000 1 2012 2012
dbSNP: rs192636495
rs192636495
1 1.000 0.080 1 204190573 missense variant G/T snv 4.0E-03 1.5E-03 0.010 1.000 1 2010 2010
dbSNP: rs201073751
rs201073751
1 1.000 0.080 1 204190633 missense variant G/A;C;T snv 5.8E-05; 1.4E-03; 4.2E-05 0.010 1.000 1 2010 2010
dbSNP: rs201617046
rs201617046
1 1.000 0.080 6 151808345 missense variant G/A snv 3.3E-04 1.4E-04 0.010 1.000 1 2013 2013
dbSNP: rs350132
rs350132
1 1.000 0.080 19 920642 missense variant T/A;C snv 0.78 0.010 1.000 1 2017 2017
dbSNP: rs587777843
rs587777843
1 1.000 0.080 1 204190681 missense variant G/A snv 2.0E-05 7.0E-05 0.010 1.000 1 2010 2010