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: rs1181028283
rs1181028283
2 0.925 0.120 22 23766215 stop gained G/A snv 4.3E-06 0.010 1.000 1 2017 2017
dbSNP: rs901115236
rs901115236
3 0.882 0.120 22 23767531 missense variant G/A;T snv 1.5E-05; 1.5E-05 0.010 1.000 1 2017 2017