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: rs104894561
rs104894561
5 0.882 0.120 17 82265743 missense variant T/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs121908635
rs121908635
2 0.925 0.120 2 238257003 missense variant T/C snv 0.010 1.000 1 2014 2014
dbSNP: rs754745652
rs754745652
1 1.000 0.120 2 238277810 missense variant T/A;C snv 4.0E-06; 4.0E-06 0.010 1.000 1 2005 2005