rs121908821, TMEM127

N. diseases: 3
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Hereditary Paraganglioma-Pheochromocytoma Syndrome
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
98 0.882 0.080 2 96254998 splice acceptor variant C/A;G snv 8.0E-06 0.700 1.000 2 2010 2010
Pheochromocytoma
CUI: C0031511
Disease: Pheochromocytoma
186 0.882 0.080 2 96254998 splice acceptor variant C/A;G snv 8.0E-06 0.700 0
PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO
CUI: C3149711
Disease: PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO
9 0.882 0.080 2 96254998 splice acceptor variant C/A;G snv 8.0E-06 0.700 0