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: rs1565651568
rs1565651568
MEN1
1 1.000 0.120 11 64809787 frameshift variant -/A ins 0.700 0
dbSNP: rs386134245
rs386134245
MEN1
1 1.000 0.120 11 64806267 frameshift variant -/A delins 0.700 0
dbSNP: rs386134261
rs386134261
MEN1
1 1.000 0.120 11 64806325 frameshift variant -/A delins 0.700 0
dbSNP: rs386134253
rs386134253
MEN1
1 1.000 0.120 11 64809857 frameshift variant -/A;AA delins 0.700 0
dbSNP: rs386134255
rs386134255
MEN1
1 1.000 0.120 11 64808079 frameshift variant -/AATT ins 0.700 0
dbSNP: rs1114167536
rs1114167536
MEN1 ; MAP4K2
2 1.000 0.120 11 64804753 frameshift variant -/ACGGCTCC delins 0.700 1.000 4 2004 2010
dbSNP: rs1555165488
rs1555165488
MEN1
2 0.925 0.120 11 64807566 frameshift variant -/AGCTCCA delins 0.700 1.000 1 2018 2018
dbSNP: rs1565635941
rs1565635941
MEN1 ; MAP4K2
1 1.000 0.120 11 64804492 frameshift variant -/C delins 0.700 1.000 3 1999 2006
dbSNP: rs1555166494
rs1555166494
MEN1
1 1.000 0.120 11 64809825 frameshift variant -/CGGTG delins 0.700 0
dbSNP: rs1555163780
rs1555163780
MEN1 ; MAP4K2
1 1.000 0.120 11 64804762 frameshift variant -/CTCGGCCGCCTCGGCCTCTCGGC delins 0.700 0
dbSNP: rs1114167531
rs1114167531
MEN1 ; MAP4K2
2 1.000 0.120 11 64804777 frameshift variant -/CTCTCGGC delins 0.700 1.000 4 2002 2008
dbSNP: rs1555164184
rs1555164184
MEN1 ; MAP4K2
1 1.000 0.120 11 64805072 frameshift variant -/G delins 0.700 1.000 1 2006 2006
dbSNP: rs1555166609
rs1555166609
MEN1
1 1.000 0.120 11 64809909 frameshift variant -/GCTGG delins 0.700 1.000 4 1998 2014
dbSNP: rs1114167524
rs1114167524
MEN1 ; MAP4K2
2 1.000 0.120 11 64805159 frameshift variant -/GGAC ins 0.700 1.000 3 1997 2006
dbSNP: rs730882136
rs730882136
MEN1
1 1.000 0.120 11 64809903 frameshift variant -/GGGGC delins 0.700 1.000 2 1997 2012
dbSNP: rs1555164430
rs1555164430
MEN1 ; MAP4K2
1 1.000 0.120 11 64805190 frameshift variant -/T delins 0.700 0
dbSNP: rs1565651223
rs1565651223
MEN1
1 1.000 0.120 11 64809724 frameshift variant A/- del 0.700 0
dbSNP: rs104894256
rs104894256
MEN1
1 1.000 0.120 11 64810045 missense variant A/C snv 0.800 1.000 28 1997 2017
dbSNP: rs1114167543
rs1114167543
MEN1
2 1.000 0.120 11 64809680 missense variant A/C snv 0.700 1.000 20 1997 2005
dbSNP: rs386134256
rs386134256
MEN1
1 1.000 0.120 11 64808042 missense variant A/G snv 0.800 1.000 18 1998 2018
dbSNP: rs1042636
rs1042636
CASR
23 0.672 0.360 3 122284922 missense variant A/G snv 0.15 9.0E-02 0.010 1.000 1 2012 2012
dbSNP: rs138550573
rs138550573
SMAD3
1 1.000 0.120 15 67165004 start lost A/G snv 2.3E-04 9.7E-04 0.010 1.000 1 2012 2012
dbSNP: rs1555164115
rs1555164115
MEN1 ; MAP4K2
1 1.000 0.120 11 64805032 splice donor variant A/G snv 0.700 0
dbSNP: rs1555164946
rs1555164946
MEN1
1 1.000 0.120 11 64806230 splice donor variant A/G snv 0.700 0
dbSNP: rs886039415
rs886039415
MEN1
2 1.000 0.120 11 64807667 missense variant A/G snv 0.700 0