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: rs397514737
rs397514737
4 0.882 0.080 5 162149153 missense variant G/A snv 0.800 1.000 2 2001 2013
dbSNP: rs121909672
rs121909672
3 0.882 0.080 5 162149168 missense variant A/T snv 0.700 1.000 2 2001 2013
dbSNP: rs121909673
rs121909673
10 0.776 0.080 5 162093965 missense variant G/A snv 0.700 1.000 1 2006 2006
dbSNP: rs267606837
rs267606837
4 0.851 0.080 5 162097839 missense variant C/G snv 0.700 1.000 1 2006 2006