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: rs377669670
rs377669670
2 0.925 0.080 1 47416547 missense variant G/A snv 3.6E-05 6.4E-05 0.700 0
dbSNP: rs755377651
rs755377651
2 0.925 0.080 1 47416625 missense variant C/G;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs80358194
rs80358194
2 0.925 0.080 1 47417035 stop gained C/A snv 1.6E-04 0.010 1.000 1 2010 2010