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: rs61661343
rs61661343
4 0.851 0.040 1 156130687 missense variant T/C snv 0.020 1.000 2 2004 2016
dbSNP: rs104894501
rs104894501
5 0.851 0.040 15 63044030 stop gained G/A;C;T snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs104894505
rs104894505
4 0.882 0.040 15 63044072 missense variant G/A snv 0.010 1.000 1 2007 2007
dbSNP: rs1212453165
rs1212453165
3 0.925 0.040 15 63043751 missense variant G/A snv 6.8E-06 0.010 1.000 1 2007 2007
dbSNP: rs267607626
rs267607626
1 1.000 0.040 1 156134454 missense variant C/T snv 1.6E-05 7.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs368779151
rs368779151
1 1.000 0.040 2 178531566 missense variant T/C snv 2.4E-05 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs758264780
rs758264780
4 0.882 0.040 15 63044029 frameshift variant G/- delins 0.010 1.000 1 2007 2007
dbSNP: rs111344408
rs111344408
1 1.000 0.040 1 201363407 splice acceptor variant C/A;G snv 0.700 0
dbSNP: rs1131691655
rs1131691655
1 1.000 0.040 2 178609769 stop gained G/C snv 0.700 0
dbSNP: rs1263987728
rs1263987728
1 1.000 0.040 14 23404296 missense variant A/C snv 7.0E-06 0.700 0
dbSNP: rs1553692290
rs1553692290
1 1.000 0.040 2 178609842 stop gained C/T snv 0.700 0
dbSNP: rs267607004
rs267607004
4 0.925 0.040 10 110812304 missense variant G/A snv 1.4E-05 0.700 0
dbSNP: rs267607560
rs267607560
2 0.925 0.040 1 156115192 missense variant C/T snv 7.0E-06 0.700 0
dbSNP: rs371678190
rs371678190
3 1.000 0.040 2 178578066 stop gained G/A;T snv 4.0E-06; 5.6E-05 0.700 0
dbSNP: rs397516465
rs397516465
1 1.000 0.040 1 201364342 missense variant G/A;T snv 4.0E-06 0.700 0
dbSNP: rs57730570
rs57730570
1 1.000 0.040 1 156137118 stop gained G/A;T snv 0.700 0
dbSNP: rs727503533
rs727503533
1 1.000 0.040 2 178531665 frameshift variant C/- del 0.700 0
dbSNP: rs727504488
rs727504488
1 1.000 0.040 1 201361305 missense variant C/T snv 0.700 0
dbSNP: rs727504856
rs727504856
2 1.000 0.040 2 178559330 frameshift variant CTTT/- del 0.700 0
dbSNP: rs730880365
rs730880365
3 1.000 0.040 2 178549998 frameshift variant -/T delins 8.1E-06 0.700 0
dbSNP: rs751261054
rs751261054
1 1.000 0.040 10 119672583 stop gained C/A;T snv 4.0E-06 0.700 0
dbSNP: rs794728588
rs794728588
2 1.000 0.040 1 156115262 missense variant A/T snv 0.700 0
dbSNP: rs878854371
rs878854371
1 1.000 0.040 2 178634463 frameshift variant TTTC/- delins 0.700 0
dbSNP: rs974510652
rs974510652
1 1.000 0.040 2 178552194 stop gained C/A;T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs397517906
rs397517906
3 0.925 0.080 1 156134890 missense variant C/T snv 8.0E-06 0.700 1.000 2 2018 2019