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: rs397515358
rs397515358
1 1.000 0.160 17 74286974 splice region variant T/G snv 0.700 0
dbSNP: rs397515565
rs397515565
1 1.000 0.160 17 74310164 splice donor variant G/A;C;T snv 1.2E-05; 8.0E-06; 4.0E-06 0.700 0