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: rs121434615
rs121434615
1 1.000 0.080 X 120539349 missense variant G/A snv 0.800 0
dbSNP: rs763692058
rs763692058
1 1.000 0.080 X 120558012 missense variant G/A snv 1.7E-05 0.700 1.000 4 2007 2010
dbSNP: rs1057519396
rs1057519396
1 1.000 0.080 X 120539326 frameshift variant GT/- delins 0.700 0
dbSNP: rs1085307760
rs1085307760
1 1.000 0.080 X 120544607 frameshift variant AATAT/- delins 0.700 0
dbSNP: rs121434616
rs121434616
6 0.925 0.080 X 120544179 stop gained G/A snv 0.700 0
dbSNP: rs1556206910
rs1556206910
1 1.000 0.080 X 120541640 frameshift variant TC/- delins 0.700 0
dbSNP: rs1569389364
rs1569389364
1 1.000 0.080 X 120539261 splice donor variant TTAC/- delins 0.700 0
dbSNP: rs786200913
rs786200913
1 1.000 0.080 X 120545519 splice acceptor variant T/C snv 0.700 0
dbSNP: rs797044862
rs797044862
1 1.000 0.080 X 120538659 splice donor variant C/A;T snv 0.700 0
dbSNP: rs869320682
rs869320682
1 1.000 0.080 X 120560544 missense variant G/A snv 9.5E-06 0.700 0