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: rs780253341
rs780253341
BBS4
2 0.925 0.320 15 72731386 missense variant G/A;T snv 0.010 1.000 1 2005 2005