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: rs121908660
rs121908660
1 1.000 0.120 11 68312743 stop gained G/A snv 0.700 0
dbSNP: rs1057519574
rs1057519574
1 1.000 0.120 11 68347960 missense variant G/T snv 0.700 0
dbSNP: rs80358305
rs80358305
3 0.882 0.160 11 68348188 missense variant C/T snv 0.700 0
dbSNP: rs121908668
rs121908668
5 0.882 0.240 11 68357673 missense variant G/T snv 0.010 1.000 1 2017 2017
dbSNP: rs760548029
rs760548029
1 1.000 0.120 11 68357768 missense variant G/A snv 4.0E-06 7.0E-06 0.700 1.000 5 2001 2008
dbSNP: rs397514665
rs397514665
1 1.000 0.120 11 68363791 missense variant C/T snv 1.2E-05 0.800 1.000 5 2001 2008
dbSNP: rs1219101402
rs1219101402
1 1.000 0.120 11 68365607 missense variant C/T snv 7.0E-06 0.700 1.000 5 2001 2008
dbSNP: rs1320065036
rs1320065036
2 0.925 0.160 11 68386342 missense variant C/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs1158745675
rs1158745675
1 1.000 0.120 11 68386367 stop gained C/A;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs886040977
rs886040977
1 1.000 0.120 11 68386442 missense variant A/G snv 0.700 0
dbSNP: rs397514664
rs397514664
1 1.000 0.120 11 68386445 missense variant C/T snv 4.0E-06 0.700 0
dbSNP: rs201320326
rs201320326
1 1.000 0.120 11 68386499 missense variant C/A;T snv 2.2E-04 0.700 1.000 5 2001 2008
dbSNP: rs750791263
rs750791263
1 1.000 0.120 11 68386510 missense variant G/A snv 1.2E-05 7.0E-06 0.700 0
dbSNP: rs1273567061
rs1273567061
1 1.000 0.120 11 68386525 missense variant A/G snv 4.0E-06 2.1E-05 0.700 0
dbSNP: rs121908661
rs121908661
1 1.000 0.120 11 68386582 stop gained C/T snv 0.700 0
dbSNP: rs757888034
rs757888034
1 1.000 0.120 11 68386600 missense variant G/A;T snv 1.2E-05; 4.0E-06 1.4E-05 0.700 0
dbSNP: rs866606166
rs866606166
1 1.000 0.120 11 68386678 missense variant G/A snv 7.0E-06 0.700 1.000 5 2001 2008
dbSNP: rs1318906451
rs1318906451
1 1.000 0.120 11 68389900 missense variant T/A snv 4.0E-06 0.700 0
dbSNP: rs121908666
rs121908666
1 1.000 0.120 11 68389921 stop gained G/T snv 0.700 0
dbSNP: rs1554967141
rs1554967141
1 1.000 0.120 11 68389935 frameshift variant G/- delins 0.700 0
dbSNP: rs121908664
rs121908664
1 1.000 0.120 11 68389949 missense variant G/A snv 0.800 1.000 5 2001 2008
dbSNP: rs545508982
rs545508982
1 1.000 0.120 11 68389980 stop gained G/A;T snv 4.0E-06; 8.0E-06 0.700 1.000 5 2001 2008
dbSNP: rs1554967176
rs1554967176
1 1.000 0.120 11 68390053 splice donor variant G/A snv 0.700 0
dbSNP: rs397514663
rs397514663
1 1.000 0.120 11 68403553 missense variant C/T snv 0.700 0
dbSNP: rs121908665
rs121908665
1 1.000 0.120 11 68403606 missense variant C/T snv 0.800 1.000 5 2001 2008