Source: GWASCAT

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: rs543874
rs543874 		1.000 0.080 1 177920345 upstream gene variant A/G snv 0.21
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 14 2010 2019
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		1.000 0.877 12 2005 2019
dbSNP: rs11591147
rs11591147
PCSK9
0.677 0.360 1 55039974 missense variant G/A;T snv 1.2E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 9 2008 2019
dbSNP: rs646776
rs646776
CELSR2
0.752 0.240 1 109275908 downstream gene variant C/T snv 0.74
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 9 2008 2019
dbSNP: rs880315
rs880315
CASZ1
0.925 0.120 1 10736809 intron variant T/C snv 0.32
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 9 2011 2018
dbSNP: rs12143842
rs12143842 		0.925 0.160 1 162064100 intergenic variant C/T snv 0.22
CUI: C0429028
Disease: QT interval feature (observable entity)
QT interval feature (observable entity) 		0.800 1.000 8 2009 2019
dbSNP: rs4846914
rs4846914
GALNT2
0.925 0.080 1 230159944 intron variant G/A snv 0.45
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.800 1.000 8 2008 2019
dbSNP: rs599839
rs599839
PSRC1
0.724 0.360 1 109279544 downstream gene variant G/A;C snv
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 8 2008 2019
dbSNP: rs6426833
rs6426833 		0.827 0.120 1 19845367 TF binding site variant G/A snv 0.52
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.810 1.000 8 2009 2017
dbSNP: rs880315
rs880315
CASZ1
0.925 0.120 1 10736809 intron variant T/C snv 0.32
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 8 2011 2018
dbSNP: rs12740374
rs12740374
CELSR2
0.851 0.040 1 109274968 3 prime UTR variant G/T snv 0.22
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 7 2008 2019
dbSNP: rs17024393
rs17024393
GNAT2
1 109612066 intron variant T/C snv 4.6E-02
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 7 2015 2019
dbSNP: rs3101336
rs3101336
LOC105378797
1.000 0.080 1 72285502 intron variant T/C snv 0.62
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 7 2015 2019
dbSNP: rs11165643
rs11165643 		1 96458541 intergenic variant C/T snv 0.48
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 6 2015 2019
dbSNP: rs11209026
rs11209026
IL23R
0.597 0.680 1 67240275 missense variant G/A snv 4.2E-02 4.6E-02
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.900 0.944 6 2006 2020
dbSNP: rs12740374
rs12740374
CELSR2
0.851 0.040 1 109274968 3 prime UTR variant G/T snv 0.22
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.800 1.000 6 2012 2019
dbSNP: rs2284746
rs2284746
MFAP2
1 16980180 intron variant C/A;G snv
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 6 2010 2019
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		1.000 0.950 6 2004 2020
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.900 0.972 6 2004 2019
dbSNP: rs2814778
rs2814778
ACKR1 ; CADM3-AS1
0.763 0.360 1 159204893 5 prime UTR variant T/C snv 0.25
CUI: C0200633
Disease: Neutrophil count (procedure)
Neutrophil count (procedure) 		0.800 1.000 6 2011 2019
dbSNP: rs4846914
rs4846914
GALNT2
0.925 0.080 1 230159944 intron variant G/A snv 0.45
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.800 1.000 6 2008 2019
dbSNP: rs6025
rs6025
F5
0.637 0.560 1 169549811 missense variant C/T snv 1.8E-02
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		0.900 1.000 6 1997 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 6 2010 2019
dbSNP: rs646776
rs646776
CELSR2
0.752 0.240 1 109275908 downstream gene variant C/T snv 0.74
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.800 1.000 6 2009 2019
dbSNP: rs660240
rs660240
CELSR2
1 109275216 3 prime UTR variant T/C snv 0.75
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 6 2008 2019