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: rs587777581
rs587777581
FGF5
1 4 80286385 missense variant T/C;G snv 8.0E-06 0.800 1.000 1 2014 2014
dbSNP: rs587777579
rs587777579
FGF5
1 4 80275013 splice donor variant G/- del 4.3E-06 0.700 0
dbSNP: rs587777580
rs587777580
FGF5
1 4 80266983 frameshift variant AT/- delins 0.700 0