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: rs2741045
rs2741045
4 2 233671494 intron variant C/T snv 0.22 0.010 1.000 1 2015 2015
dbSNP: rs4148323
rs4148323
22 0.701 0.440 2 233760498 missense variant G/A snv 2.2E-02 9.2E-03 0.010 < 0.001 1 2019 2019