Source: ALL
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: rs1163944538
rs1163944538
TMEM94
73 0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 0.700 0
dbSNP: rs1352010373
rs1352010373
TMEM94
73 0.641 0.560 17 75489265 splice acceptor variant G/C snv 0.700 0
dbSNP: rs1565400045
rs1565400045
ATM
1 11 108259050 frameshift variant A/- del 0.700 0
dbSNP: rs1565486028
rs1565486028
ATM
1 11 108307917 frameshift variant -/G delins 0.700 0
dbSNP: rs1567489890
rs1567489890
TSC2
3 1.000 0.120 16 2077476 non coding transcript exon variant G/A snv 0.700 0
dbSNP: rs773920155
rs773920155
TSC2
3 0.925 0.120 16 2061946 stop gained G/A;T snv 4.0E-06 0.700 0
dbSNP: rs1057519730
rs1057519730
MAP2K1
2 1.000 0.040 15 66436786 missense variant T/A;G snv 0.700 1.000 1 2009 2009
dbSNP: rs1057519817
rs1057519817
ERBB3
1 12 56088073 missense variant C/A;G snv 4.0E-06 0.700 1.000 1 2013 2013
dbSNP: rs1057519819
rs1057519819
MAP2K1
6 0.851 0.240 15 66436750 missense variant T/C snv 0.700 1.000 1 2009 2009
dbSNP: rs1057519820
rs1057519820
MAP2K1
1 15 66436810 missense variant A/C snv 0.700 1.000 1 2009 2009
dbSNP: rs1057519821
rs1057519821
MAP2K1
1 15 66436814 missense variant G/C;T snv 0.700 1.000 1 2009 2009
dbSNP: rs1057519822
rs1057519822
MAP2K1
3 0.925 0.080 15 66481818 missense variant T/A snv 0.700 1.000 1 2009 2009
dbSNP: rs1057519836
rs1057519836
CTNNB1
2 3 41224630 missense variant A/C;G;T snv 0.700 1.000 1 2014 2014
dbSNP: rs1057519838
rs1057519838
PIK3R1
4 0.882 0.160 5 68293790 stop gained C/T snv 0.700 1.000 1 2014 2014
dbSNP: rs1057519839
rs1057519839
PIK3R1
1 5 68295257 missense variant G/T snv 0.700 1.000 1 2014 2014
dbSNP: rs1057519840
rs1057519840
PIK3R1
1 5 68295257 inframe deletion GACAAACGTATGAACAGC/- del 0.700 1.000 1 2014 2014
dbSNP: rs1057519841
rs1057519841
PIK3R1
5 0.925 0.120 5 68295269 missense variant A/G snv 0.700 1.000 1 2014 2014
dbSNP: rs1057519842
rs1057519842
PIK3R1
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
MYC ; CASC11
1 8 127738386 missense variant C/T snv 0.700 1.000 1 2014 2014
dbSNP: rs1057519850
rs1057519850
MYC ; CASC11
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