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: rs2273500
rs2273500
4 0.882 0.080 20 63355597 splice acceptor variant T/C snv 0.16 0.16 0.700 1.000 1 2015 2015
dbSNP: rs6062901
rs6062901
1 20 63348909 intron variant G/A snv 0.71 0.700 1.000 1 2018 2018