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: rs587781250
rs587781250
1 1.000 0.080 7 76303817 missense variant G/A;T snv 4.0E-06 2.8E-05 0.700 1.000 5 2004 2014
dbSNP: rs29001571
rs29001571
4 0.851 0.080 7 76303816 missense variant C/A;T snv 8.0E-06 0.020 1.000 2 2005 2010
dbSNP: rs1060503021
rs1060503021
3 0.925 0.080 7 76304077 stop gained GC/CT mnv 0.010 1.000 1 2012 2012
dbSNP: rs863225022
rs863225022
3 0.882 0.080 7 76303844 missense variant G/C;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs863225023
rs863225023
3 0.925 0.080 7 76304078 stop gained C/T snv 4.0E-06 1.4E-05 0.010 1.000 1 2012 2012