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: rs34296044
rs34296044
3 0.925 0.080 1 241885371 frameshift variant C/- delins 0.010 1.000 1 2005 2005
dbSNP: rs4149963
rs4149963
7 0.851 0.120 1 241872080 missense variant C/T snv 0.11; 6.8E-05 7.6E-02 0.010 1.000 1 2005 2005
dbSNP: rs9350
rs9350
16 0.742 0.240 1 241885372 missense variant C/T snv 0.21 0.19 0.010 1.000 1 2005 2005