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: rs1248696
rs1248696
8 0.807 0.080 10 77856847 missense variant T/A;C snv 0.93 0.010 1.000 1 2007 2007
dbSNP: rs13361189
rs13361189
13 0.752 0.240 5 150843825 upstream gene variant T/C snv 0.21 0.010 1.000 1 2015 2015
dbSNP: rs200711300
rs200711300
3 0.925 0.040 18 12802118 missense variant A/C;G snv 1.6E-04; 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs2066842
rs2066842
15 0.763 0.200 16 50710713 missense variant C/A;T snv 4.0E-06; 0.19 0.010 1.000 1 2012 2012
dbSNP: rs2066844
rs2066844
54 0.587 0.520 16 50712015 missense variant C/T snv 2.6E-02 2.9E-02 0.010 1.000 1 2007 2007
dbSNP: rs2066845
rs2066845
46 0.611 0.600 16 50722629 missense variant G/C;T snv 1.1E-02; 2.2E-04 0.010 1.000 1 2002 2002
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.010 1.000 1 2018 2018