Source: CURATED ×
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: rs1057519855
rs1057519855
HRAS ; LRRC56
1 0.776 0.120 11 533873 missense variant CT/AC;TC mnv 0.710 1.000 1 2014 2014
dbSNP: rs1057519840
rs1057519840
PIK3R1
1 5 68295257 inframe deletion GACAAACGTATGAACAGC/- del 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: rs1565400045
rs1565400045
ATM
1 11 108259050 frameshift variant A/- del 0.700 0
dbSNP: rs1057519842
rs1057519842
PIK3R1
1 5 68295304 inframe deletion CGA/- delins 0.700 1.000 1 2014 2014
dbSNP: rs1131692242
rs1131692242
PIK3R1
1 5 68293722 inframe deletion AGA/- delins 0.700 1.000 1 2014 2014
dbSNP: rs1131692243
rs1131692243
PIK3R1
1 5 68295419 splice region variant GGT/- delins 0.700 1.000 1 2014 2014
dbSNP: rs1163944538
rs1163944538
TMEM94
73 0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 0.700 0
dbSNP: rs1565486028
rs1565486028
ATM
1 11 108307917 frameshift variant -/G delins 0.700 0
dbSNP: rs28934578
rs28934578
TP53
16 0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 0.780 0.909 3 2000 2019
dbSNP: rs1057519757
rs1057519757
PIK3R1
5 0.882 0.120 5 68293310 missense variant G/A;C snv 0.700 1.000 2 2010 2014
dbSNP: rs1057519823
rs1057519823
MAP2K1
1 15 66481830 missense variant T/C snv 0.700 1.000 2 2009 2013
dbSNP: rs11540652
rs11540652
TP53
42 0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 0.770 1.000 2 2012 2020
dbSNP: rs11554273
rs11554273
GNAS
17 0.689 0.240 20 58909365 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 2 2012 2014
dbSNP: rs121913355
rs121913355
BRAF
34 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 0.730 0.800 2 2004 2015
dbSNP: rs121913495
rs121913495
GNAS
15 0.672 0.400 20 58909366 missense variant G/A;T snv 0.730 0.800 2 2010 2014
dbSNP: rs28934575
rs28934575
TP53
25 0.641 0.400 17 7674230 missense variant C/A;G;T snv 0.740 1.000 2 2006 2018
dbSNP: rs730880502
rs730880502
MAP2K1
1 15 66436762 missense variant T/A;G snv 0.700 1.000 2 2009 2013
dbSNP: rs773686816
rs773686816
PIK3R1
1 5 68295271 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 2 2014 2014
dbSNP: rs104893829
rs104893829
VHL
2 0.882 0.240 3 10142088 missense variant C/T snv 2.0E-04 3.8E-04 0.720 1.000 1 2013 2017
dbSNP: rs104894228
rs104894228
HRAS ; LRRC56
30 0.605 0.560 11 534286 missense variant C/A;G;T snv 0.710 1.000 1 2014 2014
dbSNP: rs1057519730
rs1057519730
MAP2K1
2 1.000 0.040 15 66436786 missense variant T/A;G snv 0.700 1.000 1 2009 2009