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: rs587777033
rs587777033
1 1.000 5 62361330 missense variant C/G;T snv 4.2E-06 0.800 1.000 1 2013 2013
dbSNP: rs587777034
rs587777034
3 0.882 0.120 5 62361319 missense variant G/A snv 0.800 1.000 1 2013 2013
dbSNP: rs1554042050
rs1554042050
1 1.000 5 62361328 missense variant C/T snv 0.700 0
dbSNP: rs1561273261
rs1561273261
17 0.790 0.160 5 62361307 missense variant G/A snv 0.700 0