Source: ALL
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: rs113994191
rs113994191
BBS4
2 0.925 0.120 15 72722792 splice acceptor variant A/C;G snv 0.700 0