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: rs200300612
rs200300612
EVC2
2 0.925 0.160 4 5565256 splice donor variant A/G snv 3.2E-05 2.8E-05 0.700 1.000 3 2007 2013