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: rs397514456
rs397514456
1 1.000 0.120 20 58910818 stop gained G/A;T snv 0.800 1.000 1 2011 2011
dbSNP: rs397514457
rs397514457
1 1.000 0.120 20 58910807 missense variant T/G snv 0.800 1.000 1 2011 2011
dbSNP: rs1057518907
rs1057518907
16 0.732 0.320 20 58891811 stop gained C/G;T snv 0.700 0
dbSNP: rs137854530
rs137854530
8 0.776 0.240 20 58891727 start lost A/G;T snv 0.700 0
dbSNP: rs863224876
rs863224876
2 0.925 0.120 20 58909991 stop gained C/T snv 0.700 0