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: rs121908585
rs121908585
1 0.827 0.080 4 54285926 missense variant A/T snv 0.800 0.952 12 2003 2018
dbSNP: rs121908586
rs121908586
2 1.000 0.080 4 54274869 missense variant T/A;C snv 0.720 1.000 5 2003 2014
dbSNP: rs1057519700
rs1057519700
1 4 54277981 missense variant C/A;G snv 0.710 1.000 2 2003 2006
dbSNP: rs121913264
rs121913264
1 4 54285925 missense variant GA/AT mnv 0.700 1.000 3 2006 2014
dbSNP: rs121913265
rs121913265
1 4 54285925 missense variant G/T snv 0.700 1.000 2 2012 2014
dbSNP: rs121913262
rs121913262
1 4 54285925 inframe deletion GACATCATG/- del 0.700 1.000 1 2014 2014
dbSNP: rs121913267
rs121913267
1 4 54285928 inframe deletion ATCATGCATGAT/- del 0.700 1.000 1 2014 2014
dbSNP: rs121913269
rs121913269
1 4 54285921 inframe deletion GAGACA/- delins 0.700 1.000 1 2014 2014
dbSNP: rs1553906053
rs1553906053
1 4 54285925 inframe deletion CATCATGCATGA/- delins 0.700 1.000 1 2014 2014
dbSNP: rs587776793
rs587776793
1 4 54285934 inframe deletion CATGATTCGAAC/- del 0.700 0
dbSNP: rs587776794
rs587776794
1 4 54274863 protein altering variant -/AGAGGG delins 0.700 0
dbSNP: rs587776795
rs587776795
1 4 54274865 inframe deletion GGGTCATTGAATCAA/- delins 0.700 0
dbSNP: rs606231209
rs606231209
1 4 54274883 inframe deletion AGCCCAGATGGACATGAA/- del 0.700 0