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: rs1800682
rs1800682
ACTA2 ; FAS
0.637 0.440 10 88990206 non coding transcript exon variant A/G snv 0.54
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.700 1.000 1 2016 2016
dbSNP: rs1800682
rs1800682
ACTA2 ; FAS
0.637 0.440 10 88990206 non coding transcript exon variant A/G snv 0.54
CUI: C0855095
Disease: Small Lymphocytic Lymphoma
Small Lymphocytic Lymphoma 		0.700 1.000 1 2014 2014
dbSNP: rs1800682
rs1800682
ACTA2 ; FAS
0.637 0.440 10 88990206 non coding transcript exon variant A/G snv 0.54
CUI: C1862382
Disease: SVEINSSON CHORIORETINAL ATROPHY
SVEINSSON CHORIORETINAL ATROPHY 		0.010 1.000 1 2020 2020
dbSNP: rs1800682
rs1800682
ACTA2 ; FAS
0.637 0.440 10 88990206 non coding transcript exon variant A/G snv 0.54
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.010 1.000 1 2011 2011
dbSNP: rs1800682
rs1800682
ACTA2 ; FAS
0.637 0.440 10 88990206 non coding transcript exon variant A/G snv 0.54
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.010 1.000 1 2018 2018
dbSNP: rs1800682
rs1800682
ACTA2 ; FAS
0.637 0.440 10 88990206 non coding transcript exon variant A/G snv 0.54
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.010 1.000 1 2014 2014
dbSNP: rs1800682
rs1800682
ACTA2 ; FAS
0.637 0.440 10 88990206 non coding transcript exon variant A/G snv 0.54
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2016 2016
dbSNP: rs1800682
rs1800682
ACTA2 ; FAS
0.637 0.440 10 88990206 non coding transcript exon variant A/G snv 0.54
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma 		0.010 1.000 1 2015 2015
dbSNP: rs1800682
rs1800682
ACTA2 ; FAS
0.637 0.440 10 88990206 non coding transcript exon variant A/G snv 0.54
CUI: C0033860
Disease: Psoriasis
Psoriasis 		0.700 1.000 1 2016 2016
dbSNP: rs1800682
rs1800682
ACTA2 ; FAS
0.637 0.440 10 88990206 non coding transcript exon variant A/G snv 0.54
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 < 0.001 1 2015 2015
dbSNP: rs1800682
rs1800682
ACTA2 ; FAS
0.637 0.440 10 88990206 non coding transcript exon variant A/G snv 0.54
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.010 1.000 1 2013 2013
dbSNP: rs1800682
rs1800682
ACTA2 ; FAS
0.637 0.440 10 88990206 non coding transcript exon variant A/G snv 0.54
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2016 2016
dbSNP: rs1800682
rs1800682
ACTA2 ; FAS
0.637 0.440 10 88990206 non coding transcript exon variant A/G snv 0.54
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		0.010 1.000 1 2014 2014
dbSNP: rs1800682
rs1800682
ACTA2 ; FAS
0.637 0.440 10 88990206 non coding transcript exon variant A/G snv 0.54
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.010 1.000 1 2014 2014
dbSNP: rs1800682
rs1800682
ACTA2 ; FAS
0.637 0.440 10 88990206 non coding transcript exon variant A/G snv 0.54
CUI: C0023493
Disease: Adult T-Cell Lymphoma/Leukemia
Adult T-Cell Lymphoma/Leukemia 		0.010 1.000 1 2018 2018
dbSNP: rs1800682
rs1800682
ACTA2 ; FAS
0.637 0.440 10 88990206 non coding transcript exon variant A/G snv 0.54
CUI: C0023492
Disease: Leukemia, T-Cell
Leukemia, T-Cell 		0.010 1.000 1 2018 2018
dbSNP: rs1800682
rs1800682
ACTA2 ; FAS
0.637 0.440 10 88990206 non coding transcript exon variant A/G snv 0.54
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: 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