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: rs78311289
rs78311289
25 0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06 0.720 1.000 2 2007 2011
dbSNP: rs587779383
rs587779383
5 0.851 0.120 4 1806157 missense variant A/C;G;T snv 0.700 1.000 1 2007 2007
dbSNP: rs1014959895
rs1014959895
16 0.763 0.360 16 68329105 stop gained G/C;T snv 4.0E-06; 1.6E-05 0.700 0
dbSNP: rs1251713297
rs1251713297
15 0.776 0.360 16 68355785 stop gained C/A snv 8.1E-06 0.700 0
dbSNP: rs121913105
rs121913105
30 0.653 0.600 4 1806163 missense variant A/C;T snv 0.040 1.000 4 1999 2018
dbSNP: rs28931615
rs28931615
13 0.732 0.240 4 1804426 missense variant C/A;T snv 0.040 1.000 4 1996 2019
dbSNP: rs121913135
rs121913135
3 0.882 0.120 19 7125437 missense variant C/A snv 0.010 1.000 1 2019 2019
dbSNP: rs1445362103
rs1445362103
2 1.000 0.040 13 111244248 missense variant T/C snv 1.2E-05 7.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs2963
rs2963
4 0.851 0.240 19 7163143 synonymous variant G/A snv 9.8E-02 0.13 0.010 1.000 1 2010 2010
dbSNP: rs587777260
rs587777260
2 0.925 0.080 13 75359852 stop gained G/A;T snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs752411521
rs752411521
1 1.000 0.040 20 33624825 missense variant T/C snv 4.0E-06 0.010 1.000 1 2002 2002