Source: CURATED

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: rs397514644
rs397514644
AKT1
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
AKT1
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
dbSNP: rs121434592
rs121434592
AKT1
0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.770 1.000 0 2008 2019
dbSNP: rs121434592
rs121434592
AKT1
0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06
CUI: C0085261
Disease: Proteus Syndrome
Proteus Syndrome 		0.730 1.000 2 2008 2019
dbSNP: rs1057519804
rs1057519804
AKT1
1.000 0.040 14 104776711 missense variant G/T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 1 2014 2014
dbSNP: rs2494748
rs2494748
AKT1
14 104792555 intron variant C/T snv 0.51 0.48
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2018 2018
dbSNP: rs2494748
rs2494748
AKT1
14 104792555 intron variant C/T snv 0.51 0.48
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs2498796
rs2498796
AKT1
1.000 0.080 14 104776883 non coding transcript exon variant G/A snv 0.33
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs61759760
rs61759760
AKT1
14 104789850 intron variant C/T snv 0.31
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019