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: rs786205019
rs786205019
2 0.925 0.120 X 154030644 splice acceptor variant CTCTCGGGCTCAGGTGGAGGT/TGCTCAAGTCCTGGGGCTCAG mnv 0.700 0