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: rs201543770
rs201543770
1 1.000 11 118312171 splice donor variant G/A;T snv 2.0E-05; 4.0E-06 0.700 1.000 2 1993 2004
dbSNP: rs121918659
rs121918659
1 1.000 11 118312690 stop gained G/A snv 0.700 0
dbSNP: rs483352928
rs483352928
1 1.000 11 118313876 splice donor variant T/C snv 0.700 0