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 0.030 1.000 3 2006 2019
dbSNP: rs1006737
rs1006737
27 0.695 0.120 12 2236129 intron variant G/A snv 0.36 0.010 1.000 1 2019 2019
dbSNP: rs1018381
rs1018381
6 0.882 0.040 6 15656839 intron variant G/A snv 0.16 0.010 1.000 1 2009 2009
dbSNP: rs1344706
rs1344706
21 0.701 0.160 2 184913701 intron variant A/C;T snv 0.010 1.000 1 2011 2011
dbSNP: rs2954041
rs2954041
2 0.925 0.040 8 32665107 intron variant G/T snv 4.8E-02 0.010 1.000 1 2005 2005
dbSNP: rs3924999
rs3924999
5 0.851 0.040 8 32595840 missense variant G/A snv 0.40 0.31 0.010 1.000 1 2005 2005
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.010 1.000 1 2014 2014
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.010 1.000 1 2014 2014
dbSNP: rs781964214
rs781964214
3 0.882 0.080 19 8596401 missense variant C/T snv 8.0E-06 7.0E-06 0.010 1.000 1 2006 2006