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: rs1800562
rs1800562
HFE ; LOC108783645
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.800 1.000 2 2010 2018
dbSNP: rs1801274
rs1801274
FCGR2A
0.597 0.800 1 161509955 missense variant A/C;G snv 4.0E-06; 0.48
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs7412
rs7412
APOE
0.641 0.640 19 44908822 missense variant C/T snv 6.2E-02 7.9E-02
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.800 1.000 2 2012 2019
dbSNP: rs1260326
rs1260326
GCKR
0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.800 1.000 4 2010 2019
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.800 1.000 2 2012 2018
dbSNP: rs4420638
rs4420638
APOC1
0.708 0.520 19 44919689 downstream gene variant A/G snv 0.18
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.800 1.000 4 2009 2018
dbSNP: rs662799
rs662799
APOA5
0.689 0.480 11 116792991 upstream gene variant G/A snv 0.90
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.800 1.000 2 2012 2019
dbSNP: rs405509
rs405509
APOE
0.667 0.480 19 44905579 upstream gene variant T/G snv 0.58
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs964184
rs964184
ZPR1
0.716 0.440 11 116778201 3 prime UTR variant G/C snv 0.82
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.800 1.000 3 2010 2019
dbSNP: rs693
rs693
APOB
0.708 0.440 2 21009323 synonymous variant G/A snv 0.39 0.38
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.800 1.000 2 2009 2019
dbSNP: rs2266788
rs2266788
ZPR1 ; APOA5
0.763 0.440 11 116789970 3 prime UTR variant G/A snv 0.93
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.800 1.000 1 2012 2018
dbSNP: rs328
rs328
LPL
0.732 0.440 8 19962213 stop gained C/G snv 9.2E-02 9.0E-02
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2013 2013
dbSNP: rs708272
rs708272
CETP
0.708 0.440 16 56962376 intron variant G/A snv 0.42 0.38
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total 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: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.800 1.000 1 2012 2019
dbSNP: rs780094
rs780094
GCKR
0.658 0.400 2 27518370 intron variant T/C snv 0.67
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.800 1.000 1 2012 2019
dbSNP: rs2075650
rs2075650
TOMM40
0.662 0.360 19 44892362 intron variant A/G snv 0.13 0.13
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.800 1.000 3 2009 2013
dbSNP: rs599839
rs599839
PSRC1
0.724 0.360 1 109279544 downstream gene variant G/A;C snv
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.800 1.000 2 2012 2019
dbSNP: rs651821
rs651821
APOA5
0.851 0.360 11 116791863 5 prime UTR variant C/T snv 0.88 0.89
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.800 1.000 2 2012 2019
dbSNP: rs11591147
rs11591147
PCSK9
0.677 0.360 1 55039974 missense variant G/A;T snv 1.2E-02
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.800 1.000 1 2012 2019
dbSNP: rs2228603
rs2228603
NCAN
0.790 0.360 19 19219115 missense variant C/A;T snv 2.8E-05; 5.9E-02
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.800 1.000 1 2012 2016
dbSNP: rs505151
rs505151
PCSK9
0.732 0.360 1 55063514 missense variant G/A snv 0.95 0.90
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.800 1.000 1 2012 2017
dbSNP: rs102275
rs102275
TMEM258
0.827 0.320 11 61790331 non coding transcript exon variant T/C snv 0.47
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs10455872
rs10455872
LPA
0.662 0.320 6 160589086 intron variant A/G snv 4.3E-02
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.800 1.000 1 2012 2019
dbSNP: rs2464196
rs2464196
HNF1A
0.742 0.320 12 120997624 missense variant G/A snv 0.34 0.27
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs3780181
rs3780181
VLDLR ; VLDLR-AS1
1.000 0.320 9 2640759 intron variant A/G snv 0.11
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.800 1.000 1 2013 2018