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: rs5743618
rs5743618
25 0.677 0.360 4 38797027 missense variant C/A snv 0.53 0.51 0.700 1.000 1 2018 2018
dbSNP: rs143619350
rs143619350
1 1.000 0.120 4 38797861 stop gained G/A;T snv 1.3E-04; 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs2381289
rs2381289
2 0.925 0.120 4 38825250 3 prime UTR variant G/A snv 0.41 0.010 1.000 1 2010 2010