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: rs12654264
rs12654264
HMGCR
0.925 0.120 5 75352778 intron variant A/T snv 0.38
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 5 2008 2019
dbSNP: rs12654264
rs12654264
HMGCR
0.925 0.120 5 75352778 intron variant A/T snv 0.38
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.800 1.000 2 2012 2019
dbSNP: rs12654264
rs12654264
HMGCR
0.925 0.120 5 75352778 intron variant A/T snv 0.38
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 2 2008 2012
dbSNP: rs12654264
rs12654264
HMGCR
0.925 0.120 5 75352778 intron variant A/T snv 0.38
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2011 2011
dbSNP: rs12654264
rs12654264
HMGCR
0.925 0.120 5 75352778 intron variant A/T snv 0.38
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.700 1.000 1 2011 2011
dbSNP: rs12654264
rs12654264
HMGCR
0.925 0.120 5 75352778 intron variant A/T snv 0.38
CUI: C3888197
Disease: LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 3
LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 3 		0.700 0
dbSNP: rs12654264
rs12654264
HMGCR
0.925 0.120 5 75352778 intron variant A/T snv 0.38
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2010 2010