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: rs876660095
rs876660095
3 1.000 0.160 2 47783236 start lost G/A;C;T snv 4.1E-06 0.700 0
dbSNP: rs786201042
rs786201042
7 0.827 0.240 2 47783243 stop gained C/G;T snv 2.5E-05 0.700 1.000 6 2010 2018
dbSNP: rs1558644995
rs1558644995
1 2 47783343 frameshift variant C/- delins 0.700 0
dbSNP: rs1553408267
rs1553408267
1 2 47783376 frameshift variant -/AGCGAGGCTGGGCCTGG delins 0.700 0
dbSNP: rs1114167719
rs1114167719
1 2 47783387 stop gained G/T snv 0.700 0
dbSNP: rs876658296
rs876658296
1 2 47783400 frameshift variant CCAGGCCCTTGGC/- delins 0.700 0
dbSNP: rs1553408388
rs1553408388
2 2 47783453 stop gained G/T snv 0.700 1.000 4 2006 2015
dbSNP: rs1114167734
rs1114167734
1 2 47783493 missense variant G/A;C snv 0.700 0
dbSNP: rs1553408467
rs1553408467
1 2 47783494 splice donor variant G/C snv 0.700 0
dbSNP: rs1064794075
rs1064794075
2 2 47783495 splice donor variant TA/AG mnv 0.700 0
dbSNP: rs863225402
rs863225402
2 2 47790926 splice acceptor variant G/C snv 7.0E-06 0.700 0
dbSNP: rs1060502902
rs1060502902
1 2 47790981 stop gained G/A;T snv 0.700 0
dbSNP: rs1114167776
rs1114167776
2 1.000 0.120 2 47791020 frameshift variant -/T delins 0.700 0
dbSNP: rs1114167689
rs1114167689
2 2 47791043 stop gained C/G snv 0.700 0
dbSNP: rs786202193
rs786202193
1 2 47791059 frameshift variant TTTTTTGATGACAG/- delins 0.700 0
dbSNP: rs1553410342
rs1553410342
1 2 47791085 frameshift variant G/- delins 0.700 0
dbSNP: rs1114167728
rs1114167728
2 2 47791089 frameshift variant C/- del 0.700 0
dbSNP: rs63749873
rs63749873
5 0.882 0.160 2 47795903 stop gained C/G snv 4.0E-06 1.4E-05 0.700 1.000 14 1999 2015
dbSNP: rs587779941
rs587779941
2 2 47795904 frameshift variant AAAG/- del 0.700 1.000 2 2015 2016
dbSNP: rs1114167692
rs1114167692
1 2 47795914 stop gained C/T snv 0.700 1.000 1 2015 2015
dbSNP: rs1553411409
rs1553411409
1 2 47795927 frameshift variant -/T delins 0.700 0
dbSNP: rs1023534466
rs1023534466
1 2 47795984 frameshift variant TAAA/- delins 0.700 0
dbSNP: rs786203597
rs786203597
1 2 47796001 stop gained A/T snv 0.700 0
dbSNP: rs587782281
rs587782281
2 2 47796013 frameshift variant T/- delins 7.0E-06 0.700 1.000 1 2014 2014
dbSNP: rs63751077
rs63751077
3 1.000 0.160 2 47796035 stop gained C/A;G snv 0.700 1.000 1 2006 2006