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: rs121917772
rs121917772
3 0.882 0.240 16 20348298 missense variant A/C snv 0.010 1.000 1 2005 2005
dbSNP: rs1474676145
rs1474676145
1 1.000 1 155192042 synonymous variant C/G;T snv 0.010 1.000 1 2005 2005