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: rs10459953
rs10459953
3 0.925 0.080 17 27800492 5 prime UTR variant C/A;G;T snv 0.010 < 0.001 1 2011 2011
dbSNP: rs1060822
rs1060822
1 1.000 0.040 17 27765605 synonymous variant A/G snv 0.66 0.68 0.010 < 0.001 1 2011 2011
dbSNP: rs2297518
rs2297518
30 0.658 0.480 17 27769571 missense variant G/A snv 0.18 0.17 0.010 1.000 1 2011 2011