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: rs104894258
rs104894258
MEN1
1 1.000 0.120 11 64807952 stop gained C/T snv 0.700 0
dbSNP: rs104894260
rs104894260
MEN1 ; MAP4K2
1 1.000 0.120 11 64805077 stop gained C/T snv 0.700 0
dbSNP: rs104894265
rs104894265
MEN1
1 1.000 0.120 11 64805758 stop gained G/T snv 0.700 0
dbSNP: rs104894266
rs104894266
MEN1
2 1.000 0.120 11 64807557 stop gained G/A snv 0.700 0
dbSNP: rs1060499976
rs1060499976
MEN1
2 1.000 0.120 11 64807178 splice donor variant C/A;G;T snv 0.700 0
dbSNP: rs1060499986
rs1060499986
MEN1 ; MAP4K2
1 1.000 0.120 11 64804818 splice acceptor variant T/C snv 0.700 0
dbSNP: rs1060499987
rs1060499987
MEN1
1 1.000 0.120 11 64809792 stop gained A/T snv 0.700 0
dbSNP: rs1060499990
rs1060499990
MEN1
1 1.000 0.120 11 64809942 frameshift variant G/- delins 0.700 0
dbSNP: rs1060499992
rs1060499992
MEN1
1 1.000 0.120 11 64809764 stop gained C/A;T snv 0.700 0
dbSNP: rs1060503789
rs1060503789
MEN1
2 1.000 0.120 11 64807095 stop gained G/A;T snv 4.0E-06 0.700 0
dbSNP: rs1064793167
rs1064793167
MEN1
1 1.000 0.120 11 64808010 missense variant C/T snv 0.700 0
dbSNP: rs1114167469
rs1114167469
MEN1
3 0.925 0.160 11 64806322 missense variant G/A snv 0.700 0
dbSNP: rs1114167493
rs1114167493
MEN1
2 1.000 0.120 11 64807082 missense variant C/T snv 0.700 0
dbSNP: rs1114167494
rs1114167494
MEN1
3 1.000 0.120 11 64808031 missense variant C/A snv 0.700 0
dbSNP: rs1114167495
rs1114167495
MEN1
2 1.000 0.120 11 64806331 missense variant T/C snv 0.700 0
dbSNP: rs1114167515
rs1114167515
MEN1
2 1.000 0.120 11 64809694 missense variant T/C snv 0.700 0
dbSNP: rs1114167528
rs1114167528
MEN1 ; MAP4K2
2 1.000 0.120 11 64805103 missense variant A/T snv 0.800 0
dbSNP: rs141679530
rs141679530
MEN1 ; MAP4K2
1 1.000 0.120 11 64804632 stop gained G/A;C;T snv 3.4E-05 0.700 0
dbSNP: rs1555163780
rs1555163780
MEN1 ; MAP4K2
1 1.000 0.120 11 64804762 frameshift variant -/CTCGGCCGCCTCGGCCTCTCGGC delins 0.700 0
dbSNP: rs1555163883
rs1555163883
MEN1 ; MAP4K2
1 1.000 0.120 11 64804785 frameshift variant TCTCGGCT/- del 0.700 0
dbSNP: rs1555164115
rs1555164115
MEN1 ; MAP4K2
1 1.000 0.120 11 64805032 splice donor variant A/G snv 0.700 0
dbSNP: rs1555164430
rs1555164430
MEN1 ; MAP4K2
1 1.000 0.120 11 64805190 frameshift variant -/T delins 0.700 0
dbSNP: rs1555164870
rs1555164870
MEN1
1 1.000 0.120 11 64805997 splice donor variant GGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCG/- del 0.700 0
dbSNP: rs1555164946
rs1555164946
MEN1
1 1.000 0.120 11 64806230 splice donor variant A/G snv 0.700 0
dbSNP: rs1555164986
rs1555164986
MEN1
1 1.000 0.120 11 64806257 frameshift variant C/- delins 0.700 0