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: rs2011616
rs2011616
EMILIN1
2 1.000 0.040 2 27079693 intron variant G/A snv 0.37 0.020 1.000 2 2009 2010