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: 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: 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: 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: rs794728615
rs794728615
MEN1
0.882 0.160 11 64810025 stop gained G/A;C snv 4.2E-06
CUI: C1336746
Disease: Thymic Carcinoid Tumor
Thymic Carcinoid Tumor 		0.010 1.000 1 2012 2012