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: rs137853006
rs137853006
11 0.776 0.080 4 16013299 missense variant G/A snv 0.720 1.000 3 2010 2019
dbSNP: rs1033920857
rs1033920857
3 0.882 0.040 4 15984309 missense variant T/A;C snv 4.1E-06 0.010 1.000 1 2017 2017
dbSNP: rs146434364
rs146434364
3 0.882 0.040 4 15980426 missense variant C/T snv 7.5E-05 9.8E-05 0.010 1.000 1 2017 2017