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: rs140372256
rs140372256
2 0.925 0.040 2 208160859 stop gained C/A;G;T snv 1.5E-04; 1.6E-05; 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs767347878
rs767347878
1 1.000 0.040 2 208163280 missense variant C/T snv 6.0E-05 1.4E-05 0.010 1.000 1 2012 2012