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: rs56149945
rs56149945
49 0.595 0.680 5 143399752 missense variant T/A;C snv 2.0E-02 0.030 0.667 3 2003 2016
dbSNP: rs104893914
rs104893914
2 1.000 0.080 5 143282714 missense variant C/T snv 0.010 < 0.001 1 2018 2018