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: rs1558521605
rs1558521605
1 1.000 0.120 2 47478328 stop gained -/GTAG ins 0.700 0
dbSNP: rs63750843
rs63750843
4 0.925 0.240 2 47410235 stop gained C/G;T snv 1.6E-05 0.700 0
dbSNP: rs63751411
rs63751411
4 0.925 0.240 2 47471041 stop gained G/A;T snv 0.700 0
dbSNP: rs267607911
rs267607911
8 0.851 0.200 2 47403192 start lost A/C;G;T snv 5.1E-05; 1.4E-05 0.010 1.000 1 2012 2012
dbSNP: rs63751207
rs63751207
6 0.851 0.240 2 47466718 missense variant G/A;C;T snv 8.0E-06 0.010 1.000 1 1994 1994