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: rs10401969
rs10401969
SUGP1
0.776 0.240 19 19296909 intron variant T/C snv 0.10
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.800 1.000 3 2010 2018
dbSNP: rs12916
rs12916
HMGCR ; CERT1
0.807 0.240 5 75360714 3 prime UTR variant T/C;G snv 0.37
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.800 1.000 3 2010 2019
dbSNP: rs1367117
rs1367117
APOB
1.000 0.080 2 21041028 missense variant G/A snv 0.26 0.24
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.800 1.000 3 2010 2019
dbSNP: rs1800961
rs1800961
HNF4A
0.851 0.160 20 44413724 missense variant C/T snv 3.1E-02 2.5E-02
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.800 1.000 3 2010 2018
dbSNP: rs1883025
rs1883025
ABCA1
0.807 0.120 9 104902020 intron variant C/T snv 0.28
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.800 1.000 3 2010 2018
dbSNP: rs2000999
rs2000999
HPR ; TXNL4B
1.000 0.080 16 72074194 intron variant G/A snv 0.16
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.800 1.000 3 2010 2018
dbSNP: rs2479409
rs2479409
PCSK9
1.000 0.040 1 55038977 upstream gene variant G/A snv 0.66
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.800 1.000 3 2010 2018
dbSNP: rs4299376
rs4299376
ABCG8 ; LOC102725159
0.851 0.120 2 43845437 intron variant G/C;T snv
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.800 1.000 3 2010 2019
dbSNP: rs629301
rs629301
CELSR2
0.851 0.120 1 109275684 3 prime UTR variant G/T snv 0.74
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.800 1.000 3 2010 2019
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: rs10128711
rs10128711
SPTY2D1
11 18611437 intron variant T/C snv 0.64 0.55
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.800 1.000 2 2010 2018
dbSNP: rs11065987
rs11065987 		0.807 0.280 12 111634620 intergenic variant A/G snv 0.29
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.800 1.000 2 2010 2018
dbSNP: rs11136341
rs11136341
PLEC
8 143969375 intron variant A/G snv 0.40
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.800 1.000 2 2010 2018
dbSNP: rs11220462
rs11220462
ST3GAL4
11 126374057 intron variant G/A snv 0.12
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.800 1.000 2 2010 2018
dbSNP: rs1169288
rs1169288
HNF1A ; HNF1A-AS1
0.776 0.160 12 120978847 missense variant A/C;T snv 0.35
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.800 1.000 2 2010 2018
dbSNP: rs12027135
rs12027135
MACO1
1 25449242 intron variant A/T snv 0.50
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.800 1.000 2 2010 2018
dbSNP: rs1495741
rs1495741 		0.827 0.240 8 18415371 regulatory region variant G/A snv 0.71
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.800 1.000 2 2010 2018
dbSNP: rs1564348
rs1564348
SLC22A1
6 160157828 intron variant T/C snv 0.14
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.800 1.000 2 2010 2019
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: rs2072183
rs2072183
NPC1L1
0.925 0.040 7 44539581 synonymous variant G/A;C snv 4.0E-06; 0.25
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.800 1.000 2 2010 2017
dbSNP: rs2081687
rs2081687 		0.882 0.240 8 58476006 intergenic variant T/C snv 0.70
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.800 1.000 2 2010 2018
dbSNP: rs2131925
rs2131925
DOCK7
1 62560271 intron variant G/T snv 0.57
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.800 1.000 2 2010 2019
dbSNP: rs2255141
rs2255141
GPAM
10 112174128 intron variant A/G;T snv
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.800 1.000 2 2010 2019
dbSNP: rs2277862
rs2277862
FER1L4
20 35564866 non coding transcript exon variant C/T snv 0.18 0.17
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.800 1.000 2 2010 2018
dbSNP: rs2290159
rs2290159
RAF1
3 12587421 non coding transcript exon variant G/C snv 0.23
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.800 1.000 2 2010 2013