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: rs864309514
rs864309514
1 1.000 0.280 1 42929603 missense variant C/T snv 0.800 1.000 2 2011 2012
dbSNP: rs796053272
rs796053272
5 0.827 0.360 1 42943323 splice acceptor variant T/C snv 0.700 1.000 1 2014 2014
dbSNP: rs13306758
rs13306758
6 0.807 0.360 1 42927148 missense variant G/A;T snv 2.8E-03 0.700 0
dbSNP: rs1557646867
rs1557646867
5 0.827 0.360 1 42931159 frameshift variant -/T delins 0.700 0
dbSNP: rs796053248
rs796053248
6 0.807 0.360 1 42929885 missense variant G/A;T snv 4.0E-06 0.700 0
dbSNP: rs80359818
rs80359818
8 0.776 0.360 1 42930766 missense variant G/A snv 0.700 0
dbSNP: rs80359825
rs80359825
7 0.790 0.360 1 42929009 missense variant G/A snv 0.700 0
dbSNP: rs864309522
rs864309522
1 1.000 0.280 1 42927212 inframe deletion TGA/- delins 0.700 0