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: rs104894258
rs104894258
MEN1
1.000 0.120 11 64807952 stop gained C/T snv
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1 		0.700 0
dbSNP: rs104894259
rs104894259
MEN1 ; MAP4K2
1.000 0.120 11 64805078 missense variant A/G;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs104894260
rs104894260
MEN1 ; MAP4K2
1.000 0.120 11 64805077 stop gained C/T snv
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1 		0.700 0
dbSNP: rs104894265
rs104894265
MEN1
1.000 0.120 11 64805758 stop gained G/T snv
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1 		0.700 0
dbSNP: rs104894266
rs104894266
MEN1
1.000 0.120 11 64807557 stop gained G/A snv
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1 		0.700 0
dbSNP: rs104894267
rs104894267
MEN1 ; MAP4K2
1.000 0.120 11 64804789 stop gained G/A;T snv 7.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
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: rs1057518903
rs1057518903
MEN1
0.882 0.160 11 64807890 splice region variant C/- delins
CUI: C0262587
Disease: Parathyroid Adenoma
Parathyroid Adenoma 		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: 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: C0151468
Disease: Thyroid Gland Follicular Adenoma
Thyroid Gland Follicular Adenoma 		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: rs1060499976
rs1060499976
MEN1
1.000 0.120 11 64807178 splice donor variant C/A;G;T snv
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1 		0.700 0
dbSNP: rs1060499986
rs1060499986
MEN1 ; MAP4K2
1.000 0.120 11 64804818 splice acceptor variant T/C snv
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1 		0.700 0
dbSNP: rs1060499987
rs1060499987
MEN1
1.000 0.120 11 64809792 stop gained A/T snv
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1 		0.700 0
dbSNP: rs1060499990
rs1060499990
MEN1
1.000 0.120 11 64809942 frameshift variant G/- delins
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1 		0.700 0
dbSNP: rs1060499992
rs1060499992
MEN1
1.000 0.120 11 64809764 stop gained C/A;T snv
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1 		0.700 0
dbSNP: rs1060503789
rs1060503789
MEN1
1.000 0.120 11 64807095 stop gained G/A;T snv 4.0E-06
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1 		0.700 0
dbSNP: rs1064793167
rs1064793167
MEN1
1.000 0.120 11 64808010 missense variant C/T snv
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1 		0.700 0
dbSNP: rs1114167469
rs1114167469
MEN1
0.925 0.160 11 64806322 missense variant G/A snv
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1 		0.700 0
dbSNP: rs1114167470
rs1114167470
MEN1
11 64808015 frameshift variant AG/- del
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1114167471
rs1114167471
MEN1
11 64805693 missense variant A/C;G snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1114167472
rs1114167472
MEN1
11 64807221 splice acceptor variant T/C snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1114167476
rs1114167476
MEN1 ; MAP4K2
11 64804659 frameshift variant -/CCTT delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1114167477
rs1114167477
MEN1 ; MAP4K2
11 64805114 stop gained C/A;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0