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: rs225014
rs225014
22 0.695 0.400 14 80203237 missense variant T/C snv 0.41 0.39 0.030 0.667 3 2007 2017
dbSNP: rs7140952
rs7140952
2 0.925 0.080 14 80201929 3 prime UTR variant C/T snv 0.13 0.010 1.000 1 2013 2013