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: rs149782619
rs149782619
1 1.000 0.080 5 131165096 missense variant C/G;T snv 2.6E-04 0.810 1.000 5 2012 2020
dbSNP: rs373849532
rs373849532
1 1.000 0.080 5 131159494 missense variant G/T snv 1.6E-05 2.1E-05 0.800 1.000 2 2006 2012
dbSNP: rs397514489
rs397514489
1 1.000 0.080 5 131159578 missense variant A/G snv 4.0E-06 7.0E-06 0.800 1.000 2 2006 2012
dbSNP: rs397514490
rs397514490
1 1.000 0.080 5 131159562 missense variant C/A;G snv 8.0E-06; 4.0E-06 0.800 1.000 2 2006 2012
dbSNP: rs397514491
rs397514491
1 1.000 0.080 5 131162636 missense variant T/C snv 4.0E-06 0.800 1.000 2 2006 2012
dbSNP: rs397514493
rs397514493
1 1.000 0.080 5 131159550 missense variant C/T snv 2.0E-05 1.4E-05 0.800 1.000 2 2006 2012
dbSNP: rs1554088064
rs1554088064
1 1.000 0.080 5 131159539 missense variant C/T snv 0.700 0
dbSNP: rs397514492
rs397514492
1 1.000 0.080 5 131162604 stop gained G/A snv 4.0E-06 0.700 0
dbSNP: rs762701283
rs762701283
1 1.000 0.080 5 131162676 missense variant A/G snv 1.2E-05 0.700 0