AKT1, AKT serine/threonine kinase 1, 207

N. diseases: 1250; N. variants: 33
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs397514644
rs397514644
0.925 0.040 14 104780190 missense variant G/A snv 7.0E-06
CUI: C3554519
Disease: COWDEN SYNDROME 6
COWDEN SYNDROME 6
0.800 1.000 1 2013 2013
dbSNP: rs397514645
rs397514645
1.000 14 104770805 missense variant T/G snv
CUI: C3554519
Disease: COWDEN SYNDROME 6
COWDEN SYNDROME 6
0.800 1.000 1 2013 2013