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: rs1057518887
rs1057518887
7 0.923 0.143 4 25156851 splice region variant C/T snp 0.700 1 2015 2015
dbSNP: rs1064795760
rs1064795760
14 0.878 0.143 9 92719007 inframe deletion CATT/C in-del 0.700 1 2015 2015
dbSNP: rs749040743
rs749040743
1 1.000 0.071 19 38467655 missense variant G/A snp 4.0E-06 0.700 1 2015 2015
dbSNP: rs758247804
rs758247804
1 1.000 0.071 19 38525496 synonymous variant C/T snp 2.0E-05 0.700 1 2015 2015
dbSNP: rs121434589
rs121434589
8 0.846 0.179 17 10535137 missense variant C/T snp 0.010 1.000 1 2016 2016
dbSNP: rs786201003
rs786201003
3 0.923 0.071 13 101083752 missense variant C/T snp 0.010 1.000 1 2016 2016