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: rs121908664
rs121908664
1 1.000 0.120 11 68389949 missense variant G/A snv 0.800 1.000 5 2001 2008
dbSNP: rs121908665
rs121908665
1 1.000 0.120 11 68403606 missense variant C/T snv 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: 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: rs121908668
rs121908668
5 0.882 0.240 11 68357673 missense variant G/T snv 0.010 1.000 1 2017 2017
dbSNP: rs121908674
rs121908674
3 0.882 0.160 11 68410076 missense variant C/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs1057519574
rs1057519574
1 1.000 0.120 11 68347960 missense variant G/T snv 0.700 0
dbSNP: rs1057519575
rs1057519575
1 1.000 0.120 11 68446434 splice acceptor variant A/G snv 0.700 0
dbSNP: rs121908660
rs121908660
1 1.000 0.120 11 68312743 stop gained G/A snv 0.700 0
dbSNP: rs121908661
rs121908661
1 1.000 0.120 11 68386582 stop gained C/T snv 0.700 0
dbSNP: rs121908662
rs121908662
1 1.000 0.120 11 68409971 frameshift variant -/T delins 0.700 0
dbSNP: rs121908663
rs121908663
1 1.000 0.120 11 68413742 stop gained C/T snv 0.700 0
dbSNP: rs121908666
rs121908666
1 1.000 0.120 11 68389921 stop gained G/T snv 0.700 0
dbSNP: rs121908667
rs121908667
1 1.000 0.120 11 68410024 stop gained G/A snv 7.0E-06 0.700 0
dbSNP: rs1554967141
rs1554967141
1 1.000 0.120 11 68389935 frameshift variant G/- delins 0.700 0
dbSNP: rs1554967176
rs1554967176
1 1.000 0.120 11 68390053 splice donor variant G/A snv 0.700 0
dbSNP: rs1554971145
rs1554971145
1 1.000 0.120 11 68410126 frameshift variant G/- delins 0.700 0
dbSNP: rs397514663
rs397514663
1 1.000 0.120 11 68403553 missense variant C/T snv 0.700 0
dbSNP: rs80358305
rs80358305
3 0.882 0.160 11 68348188 missense variant C/T snv 0.700 0
dbSNP: rs80358319
rs80358319
1 1.000 0.120 11 68433642 frameshift variant A/- del 0.700 0
dbSNP: rs886040977
rs886040977
1 1.000 0.120 11 68386442 missense variant A/G snv 0.700 0
dbSNP: rs1318906451
rs1318906451
1 1.000 0.120 11 68389900 missense variant T/A snv 4.0E-06 0.700 0
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: rs746701187
rs746701187
1 1.000 0.120 11 68410019 missense variant T/C snv 4.0E-06 0.700 0
dbSNP: rs397514664
rs397514664
1 1.000 0.120 11 68386445 missense variant C/T snv 4.0E-06 0.700 0