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 0.010 1.000 1 2013 2013
dbSNP: rs13306741
rs13306741
1 1.000 0.040 17 17811708 3 prime UTR variant C/A;T snv 4.3E-03; 7.4E-06 0.010 1.000 1 2016 2016