Source: ALL

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: rs1926203
rs1926203
ACTA2 ; FAS ; STAMBPL1
0.882 0.160 10 88967577 intron variant C/A snv 0.59
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.700 1.000 1 2009 2009
dbSNP: rs1926203
rs1926203
ACTA2 ; FAS ; STAMBPL1
0.882 0.160 10 88967577 intron variant C/A snv 0.59
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.700 1.000 1 2009 2009
dbSNP: rs1926203
rs1926203
ACTA2 ; FAS ; STAMBPL1
0.882 0.160 10 88967577 intron variant C/A snv 0.59
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma 		0.700 1.000 1 2010 2010
dbSNP: rs6586161
rs6586161
ACTA2 ; FAS
0.925 0.080 10 88981502 intron variant T/A snv 0.27
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.010 1.000 1 2012 2012
dbSNP: rs6586161
rs6586161
ACTA2 ; FAS
0.925 0.080 10 88981502 intron variant T/A snv 0.27
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.010 1.000 1 2012 2012
dbSNP: rs2234767
rs2234767
ACTA2 ; FAS
0.649 0.280 10 88989499 intron variant G/A;T snv 0.15
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.020 1.000 2 2013 2014
dbSNP: rs2234767
rs2234767
ACTA2 ; FAS
0.649 0.280 10 88989499 intron variant G/A;T snv 0.15
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.020 1.000 2 2013 2014
dbSNP: rs2234767
rs2234767
ACTA2 ; FAS
0.649 0.280 10 88989499 intron variant G/A;T snv 0.15
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.020 1.000 2 2010 2012
dbSNP: rs2234767
rs2234767
ACTA2 ; FAS
0.649 0.280 10 88989499 intron variant G/A;T snv 0.15
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.020 1.000 2 2016 2018
dbSNP: rs2234767
rs2234767
ACTA2 ; FAS
0.649 0.280 10 88989499 intron variant G/A;T snv 0.15
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.020 0.500 2 2013 2014
dbSNP: rs2234767
rs2234767
ACTA2 ; FAS
0.649 0.280 10 88989499 intron variant G/A;T snv 0.15
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 0.500 2 2013 2014
dbSNP: rs2234767
rs2234767
ACTA2 ; FAS
0.649 0.280 10 88989499 intron variant G/A;T snv 0.15
CUI: C0158266
Disease: Intervertebral Disc Degeneration
Intervertebral Disc Degeneration 		0.010 1.000 1 2018 2018
dbSNP: rs2234767
rs2234767
ACTA2 ; FAS
0.649 0.280 10 88989499 intron variant G/A;T snv 0.15
CUI: C4048328
Disease: cervical cancer
cervical cancer 		0.010 < 0.001 1 2017 2017
dbSNP: rs2234767
rs2234767
ACTA2 ; FAS
0.649 0.280 10 88989499 intron variant G/A;T snv 0.15
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.010 1.000 1 2013 2013
dbSNP: rs2234767
rs2234767
ACTA2 ; FAS
0.649 0.280 10 88989499 intron variant G/A;T snv 0.15
CUI: C4525300
Disease: Stage IIA Gallbladder Cancer AJCC v8
Stage IIA Gallbladder Cancer AJCC v8 		0.010 1.000 1 2014 2014
dbSNP: rs2234767
rs2234767
ACTA2 ; FAS
0.649 0.280 10 88989499 intron variant G/A;T snv 0.15
CUI: C0920350
Disease: Autoimmune thyroiditis
Autoimmune thyroiditis 		0.010 1.000 1 2017 2017
dbSNP: rs2234767
rs2234767
ACTA2 ; FAS
0.649 0.280 10 88989499 intron variant G/A;T snv 0.15
CUI: C4525297
Disease: Stage 0 Gallbladder Cancer AJCC v8
Stage 0 Gallbladder Cancer AJCC v8 		0.010 1.000 1 2014 2014
dbSNP: rs2234767
rs2234767
ACTA2 ; FAS
0.649 0.280 10 88989499 intron variant G/A;T snv 0.15
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2016 2016
dbSNP: rs2234767
rs2234767
ACTA2 ; FAS
0.649 0.280 10 88989499 intron variant G/A;T snv 0.15
CUI: C0677607
Disease: Hashimoto Disease
Hashimoto Disease 		0.010 1.000 1 2017 2017
dbSNP: rs2234767
rs2234767
ACTA2 ; FAS
0.649 0.280 10 88989499 intron variant G/A;T snv 0.15
CUI: C0018023
Disease: Nodular Goiter
Nodular Goiter 		0.010 1.000 1 2017 2017
dbSNP: rs2234767
rs2234767
ACTA2 ; FAS
0.649 0.280 10 88989499 intron variant G/A;T snv 0.15
CUI: C4525305
Disease: Stage IV Gallbladder Cancer AJCC v8
Stage IV Gallbladder Cancer AJCC v8 		0.010 1.000 1 2014 2014
dbSNP: rs2234767
rs2234767
ACTA2 ; FAS
0.649 0.280 10 88989499 intron variant G/A;T snv 0.15
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma 		0.010 1.000 1 2016 2016
dbSNP: rs2234767
rs2234767
ACTA2 ; FAS
0.649 0.280 10 88989499 intron variant G/A;T snv 0.15
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		0.010 < 0.001 1 2017 2017
dbSNP: rs2234767
rs2234767
ACTA2 ; FAS
0.649 0.280 10 88989499 intron variant G/A;T snv 0.15
CUI: C0007847
Disease: Malignant tumor of cervix
Malignant tumor of cervix 		0.010 < 0.001 1 2017 2017
dbSNP: rs2234767
rs2234767
ACTA2 ; FAS
0.649 0.280 10 88989499 intron variant G/A;T snv 0.15
CUI: C4525301
Disease: Stage IIB Gallbladder Cancer AJCC v8
Stage IIB Gallbladder Cancer AJCC v8 		0.010 1.000 1 2014 2014