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: rs727504452
rs727504452
1 2 178702186 frameshift variant CTGCCGTGCT/- delins 0.700 1.000 5 2002 2012
dbSNP: rs72646846
rs72646846
4 0.925 0.160 2 178589849 stop gained G/A snv 7.6E-05 6.3E-05 0.700 1.000 4 2012 2019
dbSNP: rs397517580
rs397517580
1 2 178621517 stop gained G/A snv 7.0E-06 0.700 1.000 3 2012 2015
dbSNP: rs397517689
rs397517689
5 0.882 0.160 2 178574530 stop gained G/A snv 4.0E-06 0.700 1.000 3 2012 2016
dbSNP: rs727503602
rs727503602
2 1.000 0.040 2 178604049 stop gained C/T snv 0.700 1.000 3 2012 2015
dbSNP: rs727503607
rs727503607
4 0.882 0.160 2 178605642 stop gained C/A snv 0.700 1.000 3 2012 2014
dbSNP: rs140743001
rs140743001
2 1.000 0.040 2 178630250 stop gained G/A snv 8.1E-06 1.4E-05 0.700 1.000 2 2012 2014
dbSNP: rs397517735
rs397517735
4 0.925 0.160 2 178559309 splice donor variant A/T snv 4.4E-06 4.9E-05 0.700 1.000 2 2012 2013
dbSNP: rs727505284
rs727505284
3 0.925 0.160 2 178565416 stop gained G/A snv 8.0E-06 1.4E-05 0.700 1.000 2 2015 2016
dbSNP: rs1064793814
rs1064793814
1 2 178559769 stop gained C/T snv 0.700 1.000 1 2012 2012
dbSNP: rs1553742630
rs1553742630
2 1.000 0.080 2 178633900 frameshift variant -/C ins 0.700 1.000 1 2015 2015
dbSNP: rs397517587
rs397517587
1 2 178618768 stop gained G/A;T snv 4.1E-05 0.700 1.000 1 2012 2012
dbSNP: rs397517664
rs397517664
1 2 178581650 stop gained G/T snv 4.0E-06 0.700 1.000 1 2012 2012
dbSNP: rs397517749
rs397517749
1 2 178552313 frameshift variant T/- delins 0.700 1.000 1 2006 2006
dbSNP: rs397517750
rs397517750
1 2 178552121 frameshift variant -/A delins 0.700 1.000 1 2012 2012
dbSNP: rs397517776
rs397517776
3 0.925 0.160 2 178539765 frameshift variant CT/- del 2.1E-05 0.700 1.000 1 2012 2012
dbSNP: rs574660186
rs574660186
7 0.807 0.200 2 178579702 stop gained G/A;C snv 1.6E-05 3.5E-05 0.700 1.000 1 2012 2012
dbSNP: rs727503546
rs727503546
1 2 178547178 frameshift variant TCTT/- delins 0.700 1.000 1 2013 2013
dbSNP: rs727503552
rs727503552
1 2 178557838 frameshift variant G/- del 0.700 1.000 1 2012 2012
dbSNP: rs727503586
rs727503586
3 0.925 0.160 2 178589508 stop gained A/T snv 0.700 1.000 1 2012 2012
dbSNP: rs727504531
rs727504531
3 0.925 0.160 2 178573463 frameshift variant A/- del 0.700 1.000 1 2012 2012
dbSNP: rs727504660
rs727504660
1 2 178564253 frameshift variant AA/- delins 0.700 1.000 1 2012 2012
dbSNP: rs727504843
rs727504843
1 2 178718815 stop gained C/A snv 0.700 1.000 1 2012 2012
dbSNP: rs727504851
rs727504851
3 0.925 0.160 2 178613159 splice donor variant A/- del 1.6E-05 2.8E-05 0.700 1.000 1 2012 2012
dbSNP: rs730880343
rs730880343
1 2 178568710 frameshift variant -/G delins 0.700 1.000 1 2014 2014