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: rs5516
rs5516
6 0.827 0.120 19 50820217 missense variant C/G snv 0.69 0.67 0.020 1.000 2 2007 2011
dbSNP: rs5517
rs5517
2 1.000 0.040 19 50819976 missense variant T/C;G snv 0.33 0.010 1.000 1 2007 2007