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: rs4796622
rs4796622
ACLY
17 41921971 intron variant A/G snv 0.87
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs7209507
rs7209507
ACLY
17 41871398 intron variant A/G snv 0.90
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2019 2019
dbSNP: rs8071234
rs8071234
ACLY
17 41872315 intron variant C/G;T snv
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement 		0.700 1.000 1 2012 2012
dbSNP: rs886037888
rs886037888
ACLY ; TTC25
1.000 17 41930838 splice donor variant G/C;T snv
CUI: C4310721
Disease: CILIARY DYSKINESIA, PRIMARY, 35
CILIARY DYSKINESIA, PRIMARY, 35 		0.700 0
dbSNP: rs2304497
rs2304497
ACLY
1.000 0.080 17 41909521 missense variant T/C;G snv 4.0E-06; 0.10 0.11
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2015 2015
dbSNP: rs9912300
rs9912300
ACLY
0.827 0.120 17 41869011 intron variant G/A;C;T snv 4.2E-06; 0.78
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.010 1.000 1 2014 2014
dbSNP: rs9912300
rs9912300
ACLY
0.827 0.120 17 41869011 intron variant G/A;C;T snv 4.2E-06; 0.78
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.010 1.000 1 2015 2015
dbSNP: rs9912300
rs9912300
ACLY
0.827 0.120 17 41869011 intron variant G/A;C;T snv 4.2E-06; 0.78
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 1.000 1 2014 2014
dbSNP: rs9912300
rs9912300
ACLY
0.827 0.120 17 41869011 intron variant G/A;C;T snv 4.2E-06; 0.78
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2015 2015
dbSNP: rs9912300
rs9912300
ACLY
0.827 0.120 17 41869011 intron variant G/A;C;T snv 4.2E-06; 0.78
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2014 2014