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: rs121918365
rs121918365
3 0.882 0.080 12 50992810 missense variant C/G snv 1.4E-05 0.010 1.000 1 2006 2006
dbSNP: rs121918366
rs121918366
5 0.827 0.160 12 50992291 missense variant G/A;C snv 0.010 1.000 1 2006 2006
dbSNP: rs121918367
rs121918367
5 0.827 0.080 12 50999214 missense variant C/A;T snv 6.0E-05 0.010 1.000 1 2011 2011