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: rs121908817
rs121908817
2 0.925 0.040 2 96265232 frameshift variant -/T delins 0.700 0
dbSNP: rs121908821
rs121908821
3 0.882 0.080 2 96254998 splice acceptor variant C/A;G snv 8.0E-06 0.700 0
dbSNP: rs121908826
rs121908826
3 0.882 0.080 2 96254117 splice acceptor variant T/C;G snv 0.700 0
dbSNP: rs121908830
rs121908830
3 0.925 0.040 2 96254050 stop gained G/A snv 0.700 0