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: rs1555166368
rs1555166368
MEN1
6 0.851 0.120 11 64809738 frameshift variant GA/- del 0.700 0
dbSNP: rs2959656
rs2959656
MEN1 ; MAP4K2
5 0.851 0.160 11 64804546 missense variant T/C snv 0.94 0.90 0.020 1.000 2 1998 2008
dbSNP: rs386834266
rs386834266
YY1 ; MIR6764
2 1.000 0.120 14 100277470 missense variant C/G snv 0.020 1.000 2 2013 2017
dbSNP: rs121908260
rs121908260
INS ; INS-IGF2
4 0.851 0.160 11 2160835 missense variant C/T snv 0.010 1.000 1 2017 2017
dbSNP: rs193920817
rs193920817
TP53
3 0.925 0.160 17 7675131 missense variant C/T snv 0.010 1.000 1 2008 2008
dbSNP: rs530941076
rs530941076
TP53
21 0.695 0.280 17 7674873 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs730882000
rs730882000
TP53
1 1.000 0.120 17 7675137 missense variant C/G;T snv 0.010 1.000 1 2008 2008
dbSNP: rs749317102
rs749317102
GCG ; LOC101929532
1 1.000 0.120 2 162147470 missense variant T/C snv 1.2E-05 7.0E-06 0.010 1.000 1 2017 2017