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 0.010 < 0.001 1 2018 2018
dbSNP: rs6190
rs6190
6 0.827 0.120 5 143400772 missense variant C/G;T snv 4.0E-06; 1.8E-02 0.010 < 0.001 1 2018 2018
dbSNP: rs6897932
rs6897932
25 0.683 0.560 5 35874473 missense variant C/T snv 0.23 0.21 0.010 1.000 1 2014 2014