Source: CLINVAR

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: rs121434593
rs121434593
AKT2
1.000 0.080 19 40237979 missense variant C/T snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.800 1.000 0 2004 2013
dbSNP: rs387906659
rs387906659
AKT2
0.742 0.280 19 40257052 stop gained C/A;T snv
CUI: C3278384
Disease: HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY
HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY 		0.800 1.000 0 2011 2011
dbSNP: rs1057519754
rs1057519754
AKT2
19 40236313 missense variant T/C snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.700 1.000 2 2005 2014
dbSNP: rs778561687
rs778561687
AKT2
0.851 0.080 19 40235953 missense variant C/A;T snv 4.0E-06; 4.0E-06
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.700 1.000 2 2012 2014