ACTRT3, actin related protein T3, 84517

N. diseases: 12; N. variants: 4
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: rs12637184
rs12637184 		3 169769649 non coding transcript exon variant G/A snv 0.20
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2019 2019
dbSNP: rs12637184
rs12637184 		3 169769649 non coding transcript exon variant G/A snv 0.20
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.700 1.000 1 2018 2018
dbSNP: rs35446936
rs35446936 		0.776 0.080 3 169768720 intron variant G/A snv 0.21
CUI: C2675481
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 10
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 		0.700 1.000 1 2019 2019
dbSNP: rs35446936
rs35446936 		0.776 0.080 3 169768720 intron variant G/A snv 0.21
CUI: C1837315
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 		0.700 1.000 1 2019 2019
dbSNP: rs35446936
rs35446936 		0.776 0.080 3 169768720 intron variant G/A snv 0.21
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs35446936
rs35446936 		0.776 0.080 3 169768720 intron variant G/A snv 0.21
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs35446936
rs35446936 		0.776 0.080 3 169768720 intron variant G/A snv 0.21
CUI: C0042133
Disease: Uterine Fibroids
Uterine Fibroids 		Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs35446936
rs35446936 		0.776 0.080 3 169768720 intron variant G/A snv 0.21
CUI: C2677123
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 3
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2019 2019
dbSNP: rs35446936
rs35446936 		0.776 0.080 3 169768720 intron variant G/A snv 0.21
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs35446936
rs35446936 		0.776 0.080 3 169768720 intron variant G/A snv 0.21
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs35446936
rs35446936 		0.776 0.080 3 169768720 intron variant G/A snv 0.21
CUI: C3554460
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 		0.700 1.000 1 2019 2019
dbSNP: rs35446936
rs35446936 		0.776 0.080 3 169768720 intron variant G/A snv 0.21
CUI: C2242776
Disease: Plexiform leiomyoma
Plexiform leiomyoma 		0.700 1.000 1 2019 2019
dbSNP: rs35446936
rs35446936 		0.776 0.080 3 169768720 intron variant G/A snv 0.21
CUI: C0346629
Disease: Malignant neoplasm of large intestine
Malignant neoplasm of large intestine 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs9811216
rs9811216 		3 169769713 non coding transcript exon variant T/C snv 0.29
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2016 2016
dbSNP: rs9811216
rs9811216 		3 169769713 non coding transcript exon variant T/C snv 0.29
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test) 		0.700 1.000 1 2016 2016
dbSNP: rs9860874
rs9860874 		3 169768483 intron variant C/A snv 0.33
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial 		Respiratory Tract Diseases 0.700 1.000 1 2013 2013