Source: GWASDB

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: rs2228671
rs2228671
LDLR
0.790 0.160 19 11100236 stop gained C/A;G;T snv 1.6E-05; 8.9E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 3 2008 2019
dbSNP: rs2228671
rs2228671
LDLR
0.790 0.160 19 11100236 stop gained C/A;G;T snv 1.6E-05; 8.9E-02
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 3 2008 2012
dbSNP: rs2228671
rs2228671
LDLR
0.790 0.160 19 11100236 stop gained C/A;G;T snv 1.6E-05; 8.9E-02
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.800 1.000 2 2009 2019
dbSNP: rs17242381
rs17242381
LDLR
19 11096053 intron variant T/C;G snv
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs17248769
rs17248769
LDLR
19 11098900 intron variant G/A;C snv
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs2228671
rs2228671
LDLR
0.790 0.160 19 11100236 stop gained C/A;G;T snv 1.6E-05; 8.9E-02
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.730 1.000 1 2010 2020
dbSNP: rs2228671
rs2228671
LDLR
0.790 0.160 19 11100236 stop gained C/A;G;T snv 1.6E-05; 8.9E-02
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs2228671
rs2228671
LDLR
0.790 0.160 19 11100236 stop gained C/A;G;T snv 1.6E-05; 8.9E-02
CUI: C0700639
Disease: Pyloric Stenosis, Hypertrophic
Pyloric Stenosis, Hypertrophic 		0.700 1.000 1 2012 2012
dbSNP: rs2569559
rs2569559
LDLR
19 11103857 non coding transcript exon variant T/A;G snv
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs2569559
rs2569559
LDLR
19 11103857 non coding transcript exon variant T/A;G snv
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs2569559
rs2569559
LDLR
19 11103857 non coding transcript exon variant T/A;G snv
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs4804144
rs4804144
LDLR
19 11125504 intron variant C/A;T snv
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs4804144
rs4804144
LDLR
19 11125504 intron variant C/A;T snv
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs4804144
rs4804144
LDLR
19 11125504 intron variant C/A;T snv
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs8102912
rs8102912
LDLR
19 11095299 intron variant G/A;C snv
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs8102912
rs8102912
LDLR
19 11095299 intron variant G/A;C snv
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs8102912
rs8102912
LDLR
19 11095299 intron variant G/A;C snv
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs8110695
rs8110695
LDLR
19 11095854 intron variant T/A;C snv
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs8110695
rs8110695
LDLR
19 11095854 intron variant T/A;C snv
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs8110695
rs8110695
LDLR
19 11095854 intron variant T/A;C snv
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs17249141
rs17249141
LDLR
19 11089332 upstream gene variant C/T snv 3.3E-03
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2013 2013
dbSNP: rs17249141
rs17249141
LDLR
19 11089332 upstream gene variant C/T snv 3.3E-03
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 1 2013 2019
dbSNP: rs17242787
rs17242787
LDLR
19 11091784 intron variant T/A snv 6.4E-03
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 2 2012 2012
dbSNP: rs17242787
rs17242787
LDLR
19 11091784 intron variant T/A snv 6.4E-03
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 2 2012 2012
dbSNP: rs17242787
rs17242787
LDLR
19 11091784 intron variant T/A snv 6.4E-03
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012