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: rs1169288
rs1169288
21 0.776 0.160 12 120978847 missense variant A/C;T snv 0.35 0.700 1.000 1 2011 2011
dbSNP: rs1169310
rs1169310
3 12 121001630 3 prime UTR variant G/A snv 0.31 0.700 1.000 1 2011 2011
dbSNP: rs1183910
rs1183910
5 1.000 0.080 12 120983004 intron variant G/A snv 0.28 0.700 1.000 1 2011 2011
dbSNP: rs2259816
rs2259816
8 0.827 0.280 12 120997784 synonymous variant G/A;T snv 6.7E-06; 0.40 0.700 1.000 1 2011 2011
dbSNP: rs7310409
rs7310409
7 0.925 0.160 12 120987058 intron variant A/C;G;T snv 0.700 1.000 1 2011 2011