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: rs2387397
rs2387397
1 1.000 0.080 10 6348230 intron variant G/A;C snv 0.800 1.000 2 2011 2012
dbSNP: rs947474
rs947474
5 0.827 0.440 10 6348488 intron variant G/A snv 0.79 0.700 1.000 1 2016 2016