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: rs387906759
rs387906759
4 0.851 0.080 2 190995205 missense variant G/A snv 0.700 1.000 9 2011 2017
dbSNP: rs387906760
rs387906760
13 0.790 0.200 2 190995184 missense variant C/T snv 0.700 0
dbSNP: rs796065052
rs796065052
2 0.925 0.080 2 190986924 missense variant C/T snv 0.010 1.000 1 2014 2014