Disease: Multiple Endocrine Neoplasia Type 1
Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs104894259
MAP4K2 ; MEN1
1.000 0.120 11 64805078 missense variant A/G;T snv 2
rs104894261
MAP4K2 ; MEN1
1.000 0.120 11 64804588 stop gained G/A snv 2
rs1114167524
MAP4K2 ; MEN1
1.000 0.120 11 64805159 frameshift variant -/GGAC ins 2
rs767319284
MAP4K2 ; MEN1
1.000 0.120 11 64804621 frameshift variant G/-;GG delins 2
rs863224527
MAP4K2 ; MEN1
1.000 0.120 11 64804503 missense variant C/T snv 2
rs104894263
MEN1
1.000 0.120 11 64809695 missense variant G/C snv 2
rs104894266
MEN1
1.000 0.120 11 64807557 stop gained G/A snv 2
rs1060499976
MEN1
1.000 0.120 11 64807178 splice donor variant C/A;G;T snv 2
rs1060503789
MEN1
1.000 0.120 11 64807095 stop gained G/A;T snv 4.0E-06 2
rs1114167482
MEN1
1.000 0.120 11 64806259 stop gained C/T snv 2
rs1114167486
MEN1
1.000 0.120 11 64809873 frameshift variant G/- delins 2
rs1114167489
MEN1
1.000 0.120 11 64806231 splice donor variant C/G;T snv 2
rs1114167498
MEN1
1.000 0.120 11 64806370 splice acceptor variant T/C snv 2
rs376872829
MEN1
1.000 0.120 11 64808019 missense variant C/A;G;T snv 2.0E-05; 4.0E-06 2
rs386134250
MEN1
1.000 0.120 11 64810109 start lost T/A;C;G snv 2
rs397515385
MEN1
1.000 0.120 11 64809708 frameshift variant G/- del 2
rs398124437
MEN1
1.000 0.120 11 64807010 splice donor variant C/G;T snv 2
rs587776841
MEN1
0.925 0.120 11 64809858 frameshift variant ACAG/- delins 3
rs750904332
MEN1
1.000 0.120 11 64806312 stop gained G/A;C;T snv 4.0E-06 2
rs794728615
MEN1
0.882 0.160 11 64810025 stop gained G/A;C snv 4.2E-06 2
rs794728616
MEN1
1.000 0.120 11 64809997 missense variant G/A snv 2
rs794728639
MEN1
1.000 0.120 11 64809803 frameshift variant G/- delins 2
rs794728640
MEN1
1.000 0.120 11 64807914 frameshift variant TCTG/- delins 2
rs794728647
MEN1
1.000 0.120 11 64809788 stop gained G/A;C snv 8.0E-06 2
rs794728652
MEN1
1.000 0.120 11 64807551 splice donor variant C/A;T snv 4.0E-06 2