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: rs80358313
rs80358313
3 0.882 0.160 11 68406550 missense variant G/A;C;T snv 1.2E-05; 1.2E-05; 3.2E-05 0.700 1.000 5 2001 2008
dbSNP: rs1470530779
rs1470530779
1 1.000 0.120 11 68406769 missense variant G/A snv 4.0E-06 0.700 0
dbSNP: rs121908662
rs121908662
1 1.000 0.120 11 68409971 frameshift variant -/T delins 0.700 0
dbSNP: rs746701187
rs746701187
1 1.000 0.120 11 68410019 missense variant T/C snv 4.0E-06 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: rs121908674
rs121908674
3 0.882 0.160 11 68410076 missense variant C/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs1554971145
rs1554971145
1 1.000 0.120 11 68410126 frameshift variant G/- delins 0.700 0
dbSNP: rs121908663
rs121908663
1 1.000 0.120 11 68413742 stop gained C/T snv 0.700 0
dbSNP: rs377258285
rs377258285
1 1.000 0.120 11 68425202 missense variant C/T snv 5.6E-05 6.3E-05 0.700 1.000 5 2001 2008
dbSNP: rs80358319
rs80358319
1 1.000 0.120 11 68433642 frameshift variant A/- del 0.700 0
dbSNP: rs1057519575
rs1057519575
1 1.000 0.120 11 68446434 splice acceptor variant A/G snv 0.700 0
dbSNP: rs149645175
rs149645175
1 1.000 0.120 11 68448822 stop gained C/G;T snv 3.7E-05 0.700 0