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: rs4444903
rs4444903
EGF
35 0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51 0.060 1.000 6 2011 2016
dbSNP: rs11569017
rs11569017
EGF
2 0.925 0.120 4 109980955 missense variant A/T snv 7.3E-02 5.0E-02 0.010 1.000 1 2013 2013
dbSNP: rs1336242054
rs1336242054
EGF
1 1.000 0.080 4 109974747 missense variant A/G snv 4.0E-06 0.010 1.000 1 2015 2015