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: rs119489101
rs119489101
EFEMP2
2 0.925 0.080 11 65871355 missense variant C/T snv 4.0E-06 0.010 1.000 1 2015 2015