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: rs1057518850
rs1057518850
2 1.000 0.040 X 147928320 splice acceptor variant A/G snv 0.700 0
dbSNP: rs886041088
rs886041088
1 X 147929940 splice region variant A/C;G;T snv 1.2E-05 0.700 0
dbSNP: rs886041089
rs886041089
1 X 147936614 splice donor variant G/A snv 0.700 0