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: rs1555731819
rs1555731819
26 0.807 0.200 19 35729980 missense variant G/T snv 0.700 0
dbSNP: rs121434591
rs121434591
5 1.000 5 139307669 missense variant C/G snv 0.010 1.000 1 2017 2017
dbSNP: rs587776983
rs587776983
9 0.807 0.240 19 6502209 missense variant G/A;C;T snv 0.010 1.000 1 2014 2014
dbSNP: rs1554887097
rs1554887097
10 0.807 0.320 10 100989331 missense variant G/A snv 0.700 0