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: rs649964
rs649964
KL
13 33061698 missense variant T/A;C snv 8.0E-06; 0.99
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs4838544
rs4838544
CHAT
10 49648606 missense variant G/A;T snv 0.99; 1.2E-05
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs505151
rs505151
PCSK9
0.732 0.360 1 55063514 missense variant G/A snv 0.95 0.90
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 2 2012 2012
dbSNP: rs629001
rs629001
MYBPHL
1 109296296 missense variant C/G;T snv 0.93
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs562556
rs562556
PCSK9
0.827 0.280 1 55058564 missense variant G/A snv 0.86 0.83
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs1042034
rs1042034
APOB
0.851 0.240 2 21002409 missense variant C/T snv 0.70 0.78
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 2 2012 2013
dbSNP: rs5930
rs5930
LDLR ; MIR6886
0.827 0.200 19 11113589 synonymous variant A/G snv 0.63 0.66
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs3846662
rs3846662
HMGCR
0.763 0.280 5 75355259 non coding transcript exon variant A/G snv 0.50 0.58
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 3 2009 2013
dbSNP: rs679899
rs679899
APOB
0.925 0.080 2 21028042 missense variant G/A snv 0.49 0.39
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs6413504
rs6413504
LDLR
19 11131239 intron variant A/G snv 0.45 0.39
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs6698843
rs6698843
CELSR2
0.925 0.080 1 109264212 synonymous variant C/A;T snv 4.0E-06; 0.44
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs6689614
rs6689614
CELSR2
1 109264477 synonymous variant G/A;C snv 0.44
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs5925
rs5925
LDLR
0.851 0.200 19 11120205 synonymous variant T/C snv 0.42 0.37
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs2495477
rs2495477
PCSK9
1 55052794 splice region variant A/G snv 0.42 0.49
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs688
rs688
LDLR
0.742 0.400 19 11116926 synonymous variant C/T snv 0.39 0.34
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 2 2012 2012
dbSNP: rs693
rs693
APOB
0.708 0.440 2 21009323 synonymous variant G/A snv 0.39 0.38
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 5 2008 2012
dbSNP: rs1041968
rs1041968
APOB
2 21009932 synonymous variant G/A snv 0.39 0.38
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs174535
rs174535
MYRF ; TMEM258
0.776 0.280 11 61783884 missense variant T/A;C;G snv 0.38 0.32
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs8017377
rs8017377
NYNRIN
14 24414681 missense variant G/A snv 0.37 0.34
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 2 2010 2013
dbSNP: rs1169288
rs1169288
HNF1A ; HNF1A-AS1
0.776 0.160 12 120978847 missense variant A/C;T snv 0.35
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 2 2010 2013
dbSNP: rs676210
rs676210
APOB
0.925 0.120 2 21008652 missense variant G/A;T snv 0.29
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs611917
rs611917
CELSR2
1.000 0.040 1 109272630 non coding transcript exon variant A/G snv 0.28 0.32
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 2 2008 2012
dbSNP: rs1367117
rs1367117
APOB
1.000 0.080 2 21041028 missense variant G/A snv 0.26 0.24
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 3 2010 2013
dbSNP: rs2072183
rs2072183
NPC1L1
0.925 0.040 7 44539581 synonymous variant G/A;C snv 4.0E-06; 0.25
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 2 2010 2013