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: rs141554661
rs141554661
3 0.925 0.040 17 46932200 splice donor variant G/A snv 1.0E-04 2.6E-04 0.700 1.000 1 2011 2011
dbSNP: rs1568177307
rs1568177307
1 1.000 0.040 17 46935027 splice acceptor variant A/G snv 0.700 1.000 1 2011 2011