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: rs1042579
rs1042579
16 0.732 0.240 20 23048087 missense variant G/A;T snv 0.19 0.010 1.000 1 2007 2007
dbSNP: rs3176123
rs3176123
3 1.000 0.040 20 23046776 3 prime UTR variant T/G snv 0.15 0.010 1.000 1 2007 2007
dbSNP: rs3211956
rs3211956
3 0.925 0.160 7 80674446 intron variant T/G snv 6.7E-02 0.010 1.000 1 2007 2007
dbSNP: rs41508050
rs41508050
4 0.882 0.080 14 61738090 missense variant C/T snv 3.8E-03 4.0E-03 0.010 1.000 1 2007 2007
dbSNP: rs5918
rs5918
26 0.683 0.480 17 47283364 missense variant T/C snv 0.12 0.13 0.010 1.000 1 2007 2007