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: rs1476850082
rs1476850082
1 1.000 2 51026369 splice donor variant A/G snv 7.0E-06 0.700 1.000 3 2009 2014
dbSNP: rs771759988
rs771759988
1 1.000 2 51026470 splice acceptor variant C/T snv 9.2E-06 3.5E-05 0.700 1.000 3 2009 2014
dbSNP: rs267606922
rs267606922
1 1.000 2 50496039 stop gained G/C snv 4.1E-06 0.700 0