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: rs267607068
rs267607068
2 0.925 0.040 5 1414744 missense variant A/T snv 0.800 1.000 1 2009 2009
dbSNP: rs267607069
rs267607069
2 0.925 0.040 5 1411328 missense variant G/A snv 6.3E-06 0.800 1.000 1 2009 2009
dbSNP: rs431905504
rs431905504
9 0.776 0.280 5 1411242 splice donor variant C/T snv 6.4E-06 0.700 1.000 1 2012 2012
dbSNP: rs431905514
rs431905514
2 0.925 0.040 5 1416097 splice donor variant C/T snv 0.700 0
dbSNP: rs431905515
rs431905515
1 1.000 5 1421997 missense variant A/G snv 0.700 0
dbSNP: rs431905516
rs431905516
1 1.000 5 1406226 missense variant G/A snv 8.0E-06 0.700 0