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: rs121912585
rs121912585
4 0.851 0.160 12 39332405 missense variant G/A snv 0.030 1.000 3 2005 2011
dbSNP: rs267607165
rs267607165
18 0.708 0.520 16 89935679 missense variant G/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs386794162
rs386794162
2 0.925 0.160 16 89935711 missense variant CG/GA mnv 0.010 1.000 1 2012 2012
dbSNP: rs398122369
rs398122369
3 0.882 0.160 6 3224828 missense variant C/T snv 0.010 1.000 1 2012 2012