Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs77939446
RET
0.724 0.120 10 43113622 missense variant G/A;C;T snv 4.0E-06 9
rs76262710
RET
0.724 0.280 10 43113648 missense variant T/A;C;G snv 4.0E-06; 4.0E-06 11
rs79781594
RET
0.732 0.160 10 43113649 missense variant G/A;C;T snv 8
rs77503355
RET
0.776 0.160 10 43113655 missense variant G/A;C;T snv 8
rs377767404
RET
0.742 0.160 10 43114488 missense variant T/C snv 6
rs75076352
RET
0.689 0.240 10 43114500 missense variant T/A;C;G snv 1.2E-05 9
rs75996173
RET
0.716 0.240 10 43114501 missense variant G/A;C;T snv 4.0E-06; 4.0E-06 10
rs77709286
RET
0.752 0.160 10 43114502 missense variant C/G snv 4.0E-06 8
rs78014899
RET
0.742 0.160 10 43118392 missense variant G/A;C;T snv 8.0E-06 8
rs77724903
RET
0.672 0.280 10 43118460 missense variant A/G;T snv 4.0E-06; 2.1E-03 10
rs79658334
RET
0.662 0.360 10 43119548 missense variant G/A;C;T snv 1.2E-04; 4.3E-06 14
rs377767429
RET
0.790 0.120 10 43120120 missense variant GC/TT mnv 5
rs75234356
RET
0.716 0.240 10 43120144 missense variant T/G snv 1.2E-05 7.0E-06 7
rs74799832
RET
0.662 0.280 10 43121968 missense variant T/C snv 4.0E-06 17
rs1565634591
MEN1 ; MAP4K2
1.000 0.120 11 64804202 splice acceptor variant ACCGGGAACCTAGGGTTTGGGTAGAGGTGAGGCCTGTCCCCTTTGGGCTGGGGGCAGAACATGGGCTCAGAGTTGGGGGACTAAGGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATGCTGTGGGTGCTGGCACCTGAGCCGTGCTGCCACCTTCAGGGCCTCGGGCTGTGCCAGCGACAGTCCCAGGAGGCTTCCGGGGGGGTCCTGACACTGCACCCTGGCCGGTGCCCAGGCCCTTGTCCAGTGCTGGCTTCTTGGGCGGCGGGGGCTCCTCTGGCTTGGACTCCCGCCGTGGGCCCCGCCGCCGGCCTTCCCGGGCTTCCTCGCCCCACGGCTCCTCGGCCTCGGCCGCCTCGGCCTCTCGGCTCACTATGCGCACCTTCTGCCGCACCTGGG/- delins 1
rs864622617
MEN1 ; MAP4K2
1.000 0.120 11 64804428 frameshift variant G/- del 1
rs1565635941
MAP4K2 ; MEN1
1.000 0.120 11 64804492 frameshift variant -/C delins 1
rs863224527
MAP4K2 ; MEN1
1.000 0.120 11 64804503 missense variant C/T snv 2
rs794728631
MEN1 ; MAP4K2
1.000 0.120 11 64804507 stop gained G/A snv 2
rs104894261
MAP4K2 ; MEN1
1.000 0.120 11 64804588 stop gained G/A snv 2
rs767319284
MAP4K2 ; MEN1
1.000 0.120 11 64804621 frameshift variant G/-;GG delins 2
rs141679530
MEN1 ; MAP4K2
1.000 0.120 11 64804632 stop gained G/A;C;T snv 3.4E-05 1
rs1555163646
MEN1 ; MAP4K2
1.000 0.120 11 64804694 frameshift variant C/- del 1
rs863224526
MEN1 ; MAP4K2
1.000 0.120 11 64804738 stop gained C/A;G snv 2
rs1114167536
MEN1 ; MAP4K2
1.000 0.120 11 64804753 frameshift variant -/ACGGCTCC delins 2