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: rs797044951
rs797044951
3 1.000 16 56351396 missense variant G/A snv 0.700 1.000 11 1997 2019
dbSNP: rs886039494
rs886039494
3 0.925 16 56336762 missense variant C/G;T snv 0.700 1.000 11 1997 2019
dbSNP: rs587777057
rs587777057
8 0.827 0.040 16 56336744 missense variant G/A snv 0.020 1.000 2 2017 2019