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: rs1188254133
rs1188254133
0.851 0.240 6 43781990 missense variant T/G snv 7.0E-06
CUI: C4551683
Disease: Adrenal Gland Pheochromocytoma
Adrenal Gland Pheochromocytoma
0.010 1.000 1 2002 2002
dbSNP: rs1188254133
rs1188254133
0.851 0.240 6 43781990 missense variant T/G snv 7.0E-06
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome
0.010 1.000 1 2002 2002
dbSNP: rs1188254133
rs1188254133
0.851 0.240 6 43781990 missense variant T/G snv 7.0E-06
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
0.010 1.000 1 2016 2016
dbSNP: rs1188254133
rs1188254133
0.851 0.240 6 43781990 missense variant T/G snv 7.0E-06
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
0.010 1.000 1 2002 2002