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: rs34993780
rs34993780
7 0.827 0.120 2 233772413 missense variant T/A;C;G snv 2.2E-04 0.020 1.000 2 2014 2015
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 2016 2016