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: rs4148323
rs4148323
22 0.701 0.440 2 233760498 missense variant G/A snv 2.2E-02 9.2E-03 0.010 1.000 1 2017 2017
dbSNP: rs758907500
rs758907500
AGA
2 0.925 0.120 4 177440274 missense variant C/G snv 1.6E-05 0.010 1.000 1 2017 2017