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: rs2301995
rs2301995
ELN
3 0.882 0.160 7 74037810 non coding transcript exon variant G/A snv 0.11 0.020 0.500 2 2011 2011
dbSNP: rs868005
rs868005
ELN
1 1.000 7 74030784 intron variant T/C snv 0.30 0.010 1.000 1 2015 2015