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: 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: C0235782
Disease: Gallbladder Carcinoma
Gallbladder Carcinoma 		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: 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: 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: C0151468
Disease: Thyroid Gland Follicular Adenoma
Thyroid Gland Follicular Adenoma 		0.010 1.000 1 2017 2017