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: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.020 0.500 2 2009 2011
dbSNP: rs121909674
rs121909674
8 0.790 0.080 5 162153132 stop gained C/T snv 0.010 1.000 1 2017 2017