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: rs1057519757
rs1057519757
5 0.882 0.120 5 68293310 missense variant G/A;C snv 0.700 1.000 2 2010 2014
dbSNP: rs1057519823
rs1057519823
1 15 66481830 missense variant T/C snv 0.700 1.000 2 2009 2013
dbSNP: rs11554273
rs11554273
22 0.689 0.240 20 58909365 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 2 2012 2014
dbSNP: rs730880502
rs730880502
1 15 66436762 missense variant T/A;G snv 0.700 1.000 2 2009 2013
dbSNP: rs773686816
rs773686816
1 5 68295271 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 2 2014 2014
dbSNP: rs1057519730
rs1057519730
2 1.000 0.040 15 66436786 missense variant T/A;G snv 0.700 1.000 1 2009 2009
dbSNP: rs1057519817
rs1057519817
1 12 56088073 missense variant C/A;G snv 4.0E-06 0.700 1.000 1 2013 2013
dbSNP: rs1057519819
rs1057519819
6 0.851 0.240 15 66436750 missense variant T/C snv 0.700 1.000 1 2009 2009
dbSNP: rs1057519820
rs1057519820
1 15 66436810 missense variant A/C snv 0.700 1.000 1 2009 2009
dbSNP: rs1057519821
rs1057519821
1 15 66436814 missense variant G/C;T snv 0.700 1.000 1 2009 2009
dbSNP: rs1057519822
rs1057519822
3 0.925 0.080 15 66481818 missense variant T/A snv 0.700 1.000 1 2009 2009
dbSNP: rs1057519836
rs1057519836
2 3 41224630 missense variant A/C;G;T snv 0.700 1.000 1 2014 2014
dbSNP: rs1057519838
rs1057519838
4 0.882 0.160 5 68293790 stop gained C/T snv 0.700 1.000 1 2014 2014
dbSNP: rs1057519839
rs1057519839
1 5 68295257 missense variant G/T snv 0.700 1.000 1 2014 2014
dbSNP: rs1057519840
rs1057519840
1 5 68295257 inframe deletion GACAAACGTATGAACAGC/- del 0.700 1.000 1 2014 2014
dbSNP: rs1057519841
rs1057519841
5 0.925 0.120 5 68295269 missense variant A/G snv 0.700 1.000 1 2014 2014
dbSNP: rs1057519842
rs1057519842
1 5 68295304 inframe deletion CGA/- delins 0.700 1.000 1 2014 2014
dbSNP: rs1057519843
rs1057519843
APC
1 5 112839522 frameshift variant AAGATTGGAAC/- del 0.700 1.000 1 2014 2014
dbSNP: rs1057519844
rs1057519844
APC
1 5 112839522 frameshift variant AAGATTGGAACTAGGTCAGC/- del 0.700 1.000 1 2014 2014
dbSNP: rs1057519845
rs1057519845
APC
1 5 112839990 frameshift variant GGACC/- del 0.700 1.000 1 2014 2014
dbSNP: rs1057519846
rs1057519846
APC
1 5 112840263 frameshift variant ATTGATTC/- del 0.700 1.000 1 2014 2014
dbSNP: rs1057519849
rs1057519849
1 8 127738386 missense variant C/T snv 0.700 1.000 1 2014 2014
dbSNP: rs1057519850
rs1057519850
1 8 127738447 missense variant C/T snv 0.700 1.000 1 2014 2014
dbSNP: rs1057519851
rs1057519851
MYC
1 8 127738995 missense variant C/G snv 0.700 1.000 1 2014 2014
dbSNP: rs1057519852
rs1057519852
1 9 21971030 stop gained C/T snv 0.700 1.000 1 2014 2014