Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1555166368
rs1555166368
MEN1
0.851 0.120 11 64809738 frameshift variant GA/- del
CUI: C4025337
Disease: Abnormality of calcium homeostasis
Abnormality of calcium homeostasis 		0.700 0
dbSNP: rs2959656
rs2959656
MEN1 ; MAP4K2
0.851 0.160 11 64804546 missense variant T/C snv 0.94 0.90
CUI: C0001430
Disease: Adenoma
Adenoma 		0.010 1.000 1 2016 2016
dbSNP: rs121913035
rs121913035
MEN1 ; MAP4K2
1.000 0.080 11 64804513 missense variant T/A snv
CUI: C4017332
Disease: ADRENAL ADENOMA, SOMATIC
ADRENAL ADENOMA, SOMATIC 		0.700 0
dbSNP: rs121913035
rs121913035
MEN1 ; MAP4K2
1.000 0.080 11 64804513 missense variant T/A snv
CUI: C0206667
Disease: Adrenal Cortical Adenoma
Adrenal Cortical Adenoma 		0.010 1.000 1 1999 1999
dbSNP: rs607969
rs607969
MEN1
1.000 0.080 11 64808033 missense variant C/T snv 1.2E-02 1.3E-02
CUI: C0206667
Disease: Adrenal Cortical Adenoma
Adrenal Cortical Adenoma 		0.010 < 0.001 1 1999 1999
dbSNP: rs121913034
rs121913034
MEN1
1.000 11 64809707 stop gained T/A;G snv
CUI: C4017331
Disease: ANGIOFIBROMA, SOMATIC
ANGIOFIBROMA, SOMATIC 		0.700 0
dbSNP: rs267607234
rs267607234
MEN1
1.000 11 64805745 missense variant CC/TT mnv
CUI: C4017331
Disease: ANGIOFIBROMA, SOMATIC
ANGIOFIBROMA, SOMATIC 		0.700 0
dbSNP: rs1555166368
rs1555166368
MEN1
0.851 0.120 11 64809738 frameshift variant GA/- del
CUI: C1855801
Disease: Calcium nephrolithiasis
Calcium nephrolithiasis 		0.700 0
dbSNP: rs794728615
rs794728615
MEN1
0.882 0.160 11 64810025 stop gained G/A;C snv 4.2E-06
CUI: C0007095
Disease: Carcinoid Tumor
Carcinoid Tumor 		0.010 1.000 1 2012 2012
dbSNP: rs1057518903
rs1057518903
MEN1
0.882 0.160 11 64807890 splice region variant C/- delins
CUI: C0401151
Disease: Chronic diarrhea
Chronic diarrhea 		0.700 0
dbSNP: rs1057518903
rs1057518903
MEN1
0.882 0.160 11 64807890 splice region variant C/- delins
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.700 0
dbSNP: rs1555165565
rs1555165565
MEN1
1.000 0.040 11 64807638 frameshift variant -/G delins
CUI: C0014474
Disease: Ependymoma
Ependymoma 		0.700 0
dbSNP: rs760629445
rs760629445
MEN1
0.925 0.120 11 64810048 missense variant C/A;T snv 4.2E-06; 8.4E-06
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2018 2018
dbSNP: rs794728615
rs794728615
MEN1
0.882 0.160 11 64810025 stop gained G/A;C snv 4.2E-06
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 1998 1998
dbSNP: rs794728648
rs794728648
MEN1
0.925 0.120 11 64808078 missense variant C/A;T snv
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2017 2017
dbSNP: rs104894262
rs104894262
MEN1
1.000 0.040 11 64807994 splice donor variant A/T snv
CUI: C0271846
Disease: Familial hyperparathyroidism
Familial hyperparathyroidism 		0.010 1.000 1 1998 1998
dbSNP: rs149383809
rs149383809
MEN1
0.925 0.120 11 64805722 missense variant T/A snv 7.2E-05 3.5E-05
CUI: C4551961
Disease: Familial Isolated Hyperparathyroidism
Familial Isolated Hyperparathyroidism 		0.010 1.000 1 2011 2011
dbSNP: rs1057518903
rs1057518903
MEN1
0.882 0.160 11 64807890 splice region variant C/- delins
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		0.700 0
dbSNP: rs1114167469
rs1114167469
MEN1
0.925 0.160 11 64806322 missense variant G/A snv
CUI: C0017689
Disease: Glucagonoma
Glucagonoma 		0.010 1.000 1 2000 2000
dbSNP: rs863223311
rs863223311
MEN1 ; MAP4K2
1.000 0.040 11 64805033 splice donor variant C/T snv
CUI: C1840402
Disease: HYPERPARATHYROIDISM 1
HYPERPARATHYROIDISM 1 		0.700 0
dbSNP: rs1555165488
rs1555165488
MEN1
0.925 0.120 11 64807566 frameshift variant -/AGCTCCA delins
CUI: C0221002
Disease: Hyperparathyroidism, Primary
Hyperparathyroidism, Primary 		0.700 1.000 1 2018 2018
dbSNP: rs1555166368
rs1555166368
MEN1
0.851 0.120 11 64809738 frameshift variant GA/- del
CUI: C0221002
Disease: Hyperparathyroidism, Primary
Hyperparathyroidism, Primary 		0.700 0
dbSNP: rs869312167
rs869312167
MEN1
1.000 0.040 11 64809958 frameshift variant T/- delins
CUI: C0221002
Disease: Hyperparathyroidism, Primary
Hyperparathyroidism, Primary 		0.700 0
dbSNP: rs1057518903
rs1057518903
MEN1
0.882 0.160 11 64807890 splice region variant C/- delins
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.700 0
dbSNP: rs2959656
rs2959656
MEN1 ; MAP4K2
0.851 0.160 11 64804546 missense variant T/C snv 0.94 0.90
CUI: C0021670
Disease: insulinoma
insulinoma 		0.020 1.000 2 1998 2008