AKT1, AKT serine/threonine kinase 1, 207

N. diseases: 1250; N. variants: 33
Disease: Malignant neoplasm of endometrium ×
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: rs1200003171
rs1200003171 		0.882 0.120 14 104775122 missense variant C/A;T snv 8.0E-06
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2009 2009
dbSNP: rs121434592
rs121434592 		0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2009 2009
dbSNP: rs2494737
rs2494737 		0.925 0.080 14 104779988 intron variant T/A snv 0.40
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2016 2016
dbSNP: rs2494750
rs2494750 		0.925 0.080 14 104796575 upstream gene variant G/C snv 0.86
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 < 0.001 1 2015 2015
dbSNP: rs2498801
rs2498801 		0.790 0.120 14 104769221 upstream gene variant T/C snv 0.41
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2012 2012
dbSNP: rs72715985
rs72715985 		0.925 0.080 14 104797210 upstream gene variant C/T snv 2.6E-02
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 < 0.001 1 2015 2015
dbSNP: rs74090038
rs74090038 		0.925 0.080 14 104796444 upstream gene variant C/T snv 0.29
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 < 0.001 1 2015 2015