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: rs794728618
rs794728618
MEN1
11 64808030 missense variant T/A snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 7 1998 2016
dbSNP: rs1060499973
rs1060499973
MEN1
11 64807093 missense variant G/A;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 3 2002 2011
dbSNP: rs1114167488
rs1114167488
MEN1
11 64807632 missense variant C/T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 3 2007 2016
dbSNP: rs1114167517
rs1114167517
MEN1 ; MAP4K2
11 64804498 missense variant T/C snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 3 2006 2012
dbSNP: rs1060499984
rs1060499984
MEN1
11 64805643 stop gained G/A;C snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 2 1999 2012
dbSNP: rs1114167522
rs1114167522
MEN1 ; MAP4K2
11 64804637 frameshift variant TG/- del
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 2 1998 2002
dbSNP: rs1114167526
rs1114167526
MEN1 ; MAP4K2
11 64805126 missense variant T/A snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 2 2010 2012
dbSNP: rs1555163115
rs1555163115
MEN1 ; MAP4K2
11 64804439 inframe deletion ATGGCGCTCGAGTTGATCTTG/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 2 2006 2012
dbSNP: rs886039414
rs886039414
MEN1
11 64807675 stop gained C/A;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 2 2002 2005
dbSNP: rs1064793169
rs1064793169
MEN1
11 64806359 missense variant A/G snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 1 2012 2012
dbSNP: rs1114167473
rs1114167473
MEN1
11 64805718 missense variant C/G;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 1 1998 1998
dbSNP: rs1114167474
rs1114167474
MEN1
11 64805756 missense variant C/T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 1 2005 2005
dbSNP: rs1114167480
rs1114167480
MEN1
11 64806268 missense variant A/G snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 1 2007 2007
dbSNP: rs1114167501
rs1114167501
MEN1 ; MAP4K2
11 64804501 stop gained C/A snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 1 2005 2005
dbSNP: rs1114167502
rs1114167502
MEN1
11 64807215 missense variant A/G snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 1 2012 2012
dbSNP: rs1114167505
rs1114167505
MEN1
11 64807099 splice acceptor variant C/T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 1 2015 2015
dbSNP: rs1114167509
rs1114167509
MEN1 ; MAP4K2
11 64805036 stop gained G/A snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 1 1999 1999
dbSNP: rs1114167511
rs1114167511
MEN1
11 64809678 stop gained GA/TT mnv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 1 2005 2005
dbSNP: rs1114167513
rs1114167513
MEN1 ; MAP4K2
11 64805169 frameshift variant -/T delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 1 1999 1999
dbSNP: rs1114167527
rs1114167527
MEN1
11 64809840 stop gained A/T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 1 2001 2001
dbSNP: rs1114167533
rs1114167533
MEN1 ; MAP4K2
11 64805115 stop gained C/T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 1 2006 2006
dbSNP: rs1157581823
rs1157581823
MEN1
11 64810060 missense variant T/C snv 7.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2012 2012
dbSNP: rs1565635212
rs1565635212
MEN1 ; MAP4K2
1.000 11 64804336 stop lost A/T snv
CUI: C4538355
Disease: PITUITARY ADENOMA 1, MULTIPLE TYPES
PITUITARY ADENOMA 1, MULTIPLE TYPES 		0.700 1.000 1 2019 2019
dbSNP: rs767078097
rs767078097
MEN1
11 64805767 stop gained G/A;C snv 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 1 2006 2006
dbSNP: rs778272737
rs778272737
MEN1 ; MAP4K2
1.000 11 64803864 3 prime UTR variant T/C snv 2.4E-04
CUI: C4538355
Disease: PITUITARY ADENOMA 1, MULTIPLE TYPES
PITUITARY ADENOMA 1, MULTIPLE TYPES 		0.700 1.000 1 2019 2019