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: rs17746510
rs17746510
5 0.882 0.080 2 173019562 intron variant T/C;G snv 0.010 < 0.001 1 2016 2016
dbSNP: rs2619538
rs2619538
4 0.882 0.040 6 15664978 upstream gene variant A/T snv 0.54 0.010 1.000 1 2005 2005