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: rs12520799
rs12520799
1 1.000 0.040 5 135446760 stop gained T/A;C snv 0.51 0.020 0.500 2 2011 2013
dbSNP: rs10061623
rs10061623
1 1.000 0.040 5 135445391 3 prime UTR variant G/A;C snv 0.010 1.000 1 2013 2013