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: rs730880299
rs730880299
2 0.925 6 24290987 stop gained T/A snv 0.700 0
dbSNP: rs757704417
rs757704417
2 0.925 6 24357627 frameshift variant AC/- delins 1.6E-05 7.0E-06 0.700 0
dbSNP: rs760040426
rs760040426
1 1.000 6 24302046 splice acceptor variant T/C snv 2.5E-05 0.700 0
dbSNP: rs909339162
rs909339162
1 1.000 6 24278202 missense variant G/A snv 1.6E-05 2.8E-05 0.700 0