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: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.100 0.929 14 2003 2019
dbSNP: rs2032582
rs2032582
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.070 1.000 7 2008 2013
dbSNP: rs1128503
rs1128503
64 0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63 0.040 1.000 4 2008 2013
dbSNP: rs3789243
rs3789243
14 0.776 0.120 7 87591570 intron variant A/G snv 0.50 0.030 1.000 3 2009 2013
dbSNP: rs1202168
rs1202168
1 1.000 0.080 7 87566646 intron variant G/A snv 0.39 0.020 1.000 2 2011 2012
dbSNP: rs868755
rs868755
1 1.000 0.080 7 87560614 intron variant T/G snv 0.68 0.010 1.000 1 2012 2012
dbSNP: rs979090956
rs979090956
5 0.827 0.200 7 87553822 missense variant G/C snv 0.010 1.000 1 2015 2015