Source: BEFREE

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: rs104894263
rs104894263
MEN1
1.000 0.120 11 64809695 missense variant G/C snv
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1 		0.810 1.000 1 1997 2017
dbSNP: rs1060499981
rs1060499981
MEN1 ; MAP4K2
1.000 0.120 11 64805056 missense variant G/T snv
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1 		0.710 1.000 1 2012 2012
dbSNP: rs1060499991
rs1060499991
MEN1 ; MAP4K2
1.000 0.120 11 64804755 stop gained C/T snv
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1 		0.710 1.000 1 1999 2012
dbSNP: rs386134250
rs386134250
MEN1
1.000 0.120 11 64810109 start lost T/A;C;G snv
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1 		0.710 1.000 1 2000 2017
dbSNP: rs794728615
rs794728615
MEN1
0.882 0.160 11 64810025 stop gained G/A;C snv 4.2E-06
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1 		0.710 1.000 1 1998 2014
dbSNP: rs794728648
rs794728648
MEN1
0.925 0.120 11 64808078 missense variant C/A;T snv
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1 		0.710 1.000 1 2001 2017
dbSNP: rs149383809
rs149383809
MEN1
0.925 0.120 11 64805722 missense variant T/A snv 7.2E-05 3.5E-05
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1 		0.010 1.000 1 2011 2011
dbSNP: rs369348210
rs369348210
MEN1
1.000 0.120 11 64810092 synonymous variant G/A;C snv 7.3E-05
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1 		0.010 1.000 1 2010 2010
dbSNP: rs760629445
rs760629445
MEN1
0.925 0.120 11 64810048 missense variant C/A;T snv 4.2E-06; 8.4E-06
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1 		0.010 1.000 1 2018 2018