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: rs11868035
rs11868035
14 0.763 0.200 17 17811787 splice region variant G/A snv 0.45 0.33 0.020 1.000 2 2013 2018
dbSNP: rs11654081
rs11654081
1 1.000 0.040 17 17804815 intron variant T/C snv 0.51 0.010 1.000 1 2016 2016