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: rs121908260
rs121908260
4 0.851 0.160 11 2160835 missense variant C/T snv 0.800 1.000 4 2008 2014
dbSNP: rs121908278
rs121908278
1 1.000 0.080 11 2160956 missense variant G/A;C snv 2.8E-05; 4.1E-06 0.800 1.000 4 2008 2014
dbSNP: rs1564911425
rs1564911425
2 0.925 0.080 11 2159895 missense variant G/C snv 0.700 1.000 5 2007 2015
dbSNP: rs121908259
rs121908259
1 1.000 0.080 11 2160955 missense variant C/T snv 9.3E-05 1.9E-04 0.700 1.000 4 2008 2014
dbSNP: rs886037863
rs886037863
1 1.000 0.080 11 2160847 missense variant A/G snv 0.700 0