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: rs28931612
rs28931612
MEN1
0.925 0.120 11 64810034 stop gained C/A;T snv
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1 		0.700 1.000 20 1997 2005
dbSNP: rs387906552
rs387906552
MEN1
1.000 0.120 11 64805745 missense variant C/T snv
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1 		0.700 1.000 20 1997 2005
dbSNP: rs794728624
rs794728624
MEN1
1.000 0.120 11 64807613 missense variant C/T snv
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1 		0.700 1.000 20 1997 2005
dbSNP: rs767319284
rs767319284
MEN1 ; MAP4K2
1.000 0.120 11 64804621 frameshift variant G/-;GG delins
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1 		0.700 1.000 15 1997 2015
dbSNP: rs587776841
rs587776841
MEN1
0.925 0.120 11 64809858 frameshift variant ACAG/- delins
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1 		0.700 1.000 10 1997 2014
dbSNP: rs794728640
rs794728640
MEN1
1.000 0.120 11 64807914 frameshift variant TCTG/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 9 1997 2016
dbSNP: rs1060499974
rs1060499974
MEN1 ; MAP4K2
1.000 0.120 11 64805141 stop gained G/A snv 7.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 8 1997 2017
dbSNP: rs1114167491
rs1114167491
MEN1
1.000 0.120 11 64809977 missense variant C/T snv
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1 		0.700 1.000 8 2001 2017
dbSNP: rs1298484645
rs1298484645
MEN1
1.000 0.120 11 64805666 missense variant G/A snv 4.0E-06
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1 		0.700 1.000 8 2001 2017
dbSNP: rs745404679
rs745404679
MEN1 ; MAP4K2
1.000 0.120 11 64804549 missense variant G/A;T snv 1.1E-04; 4.0E-06
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1 		0.700 1.000 8 2001 2017
dbSNP: rs767319284
rs767319284
MEN1 ; MAP4K2
1.000 0.120 11 64804621 frameshift variant G/-;GG delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 8 1990 2012
dbSNP: rs869025185
rs869025185
MEN1
1.000 0.120 11 64805731 inframe deletion CCT/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 8 1997 2012
dbSNP: rs1060499974
rs1060499974
MEN1 ; MAP4K2
1.000 0.120 11 64805141 stop gained G/A snv 7.0E-06
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1 		0.700 1.000 7 1997 2015
dbSNP: rs1114167543
rs1114167543
MEN1
1.000 0.120 11 64809680 missense variant A/C snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 7 1997 2012
dbSNP: rs587776841
rs587776841
MEN1
0.925 0.120 11 64809858 frameshift variant ACAG/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 7 1997 2014
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: rs794728657
rs794728657
MEN1
1.000 0.120 11 64809750 inframe deletion TTC/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 7 1997 2011
dbSNP: rs863224527
rs863224527
MEN1 ; MAP4K2
1.000 0.120 11 64804503 missense variant C/T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 7 1998 2012
dbSNP: rs104894261
rs104894261
MEN1 ; MAP4K2
1.000 0.120 11 64804588 stop gained G/A snv
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1 		0.700 1.000 6 1997 2014
dbSNP: rs104894263
rs104894263
MEN1
1.000 0.120 11 64809695 missense variant G/C snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 6 1997 2013
dbSNP: rs376872829
rs376872829
MEN1
1.000 0.120 11 64808019 missense variant C/A;G;T snv 2.0E-05; 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 6 1997 2013
dbSNP: rs794728625
rs794728625
MEN1
1.000 0.120 11 64807228 intron variant C/T snv
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1 		0.700 1.000 6 1999 2012
dbSNP: rs794728631
rs794728631
MEN1 ; MAP4K2
1.000 0.120 11 64804507 stop gained G/A snv
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1 		0.700 1.000 6 1999 2007
dbSNP: rs794728640
rs794728640
MEN1
1.000 0.120 11 64807914 frameshift variant TCTG/- delins
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1 		0.700 1.000 6 1998 2014
dbSNP: rs794728647
rs794728647
MEN1
1.000 0.120 11 64809788 stop gained G/A;C snv 8.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 6 1997 2015