Source: CURATED

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: rs34219567
rs34219567
THA1P ; LOC105371910
17 78251955 intron variant A/G snv 0.29
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2019 2019
dbSNP: rs4330912
rs4330912
ARHGEF2 ; LOC107985208 ; ARHGEF2-AS1
1 155999637 intron variant C/G snv 0.53
CUI: C0005612
Disease: Birth Weight
Birth Weight 		0.700 1.000 1 2016 2016
dbSNP: rs488884
rs488884
LINC02109 ; LOC107986410
1.000 0.040 5 29040014 intron variant T/G snv 0.55
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders 		0.700 1.000 1 2013 2013
dbSNP: rs488884
rs488884
LINC02109 ; LOC107986410
1.000 0.040 5 29040014 intron variant T/G snv 0.55
CUI: C0338480
Disease: Common Migraine
Common Migraine 		0.700 1.000 1 2013 2013
dbSNP: rs6043409
rs6043409
SIRPG ; SIRPG-AS1
1.000 0.120 20 1635560 missense variant A/G snv 0.73 0.72
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.700 1.000 1 2015 2015
dbSNP: rs6043409
rs6043409
SIRPG ; SIRPG-AS1
1.000 0.120 20 1635560 missense variant A/G snv 0.73 0.72
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs6234
rs6234
PCSK1 ; LOC101929710
0.851 0.160 5 96393270 missense variant G/C snv 0.27 0.24
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs6234
rs6234
PCSK1 ; LOC101929710
0.851 0.160 5 96393270 missense variant G/C snv 0.27 0.24
CUI: C0428568
Disease: Fasting blood glucose measurement
Fasting blood glucose measurement 		0.700 1.000 1 2015 2015
dbSNP: rs6234
rs6234
PCSK1 ; LOC101929710
0.851 0.160 5 96393270 missense variant G/C snv 0.27 0.24
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs6234
rs6234
PCSK1 ; LOC101929710
0.851 0.160 5 96393270 missense variant G/C snv 0.27 0.24
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2018 2018
dbSNP: rs6235
rs6235
PCSK1 ; LOC101929710
0.925 0.120 5 96393194 missense variant C/G snv 0.26 0.23
CUI: C0424678
Disease: Lean body mass
Lean body mass 		0.700 1.000 1 2019 2019
dbSNP: rs6235
rs6235
PCSK1 ; LOC101929710
0.925 0.120 5 96393194 missense variant C/G snv 0.26 0.23
CUI: C0428568
Disease: Fasting blood glucose measurement
Fasting blood glucose measurement 		0.700 1.000 1 2013 2013
dbSNP: rs631844
rs631844
LINC02109 ; LOC107986410
1.000 0.040 5 29054513 intron variant C/T snv 0.48
CUI: C0423791
Disease: Maculopapular Lesion
Maculopapular Lesion 		0.700 1.000 1 2015 2015
dbSNP: rs631844
rs631844
LINC02109 ; LOC107986410
1.000 0.040 5 29054513 intron variant C/T snv 0.48
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.700 1.000 1 2015 2015
dbSNP: rs6755777
rs6755777
HAGLR ; HAGLROS
0.882 0.120 2 176178498 non coding transcript exon variant T/A;G snv
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 1.000 1 2017 2017
dbSNP: rs6755777
rs6755777
HAGLR ; HAGLROS
0.882 0.120 2 176178498 non coding transcript exon variant T/A;G snv
CUI: C1335167
Disease: Ovarian Mucinous Adenocarcinoma
Ovarian Mucinous Adenocarcinoma 		0.700 1.000 1 2017 2017
dbSNP: rs6755777
rs6755777
HAGLR ; HAGLROS
0.882 0.120 2 176178498 non coding transcript exon variant T/A;G snv
CUI: C1335177
Disease: Ovarian Serous Adenocarcinoma
Ovarian Serous Adenocarcinoma 		0.700 1.000 1 2017 2017
dbSNP: rs6882366
rs6882366
CAST ; LOC101929710
5 96528989 intron variant C/T snv 0.39
CUI: C0005893
Disease: Body mass index procedure
Body mass index procedure 		0.700 1.000 1 2012 2012
dbSNP: rs6882366
rs6882366
CAST ; LOC101929710
5 96528989 intron variant C/T snv 0.39
CUI: C0578022
Disease: Finding of body mass index
Finding of body mass index 		0.700 1.000 1 2012 2012
dbSNP: rs843750
rs843750
ACYP2 ; LOC105374610
2 54277598 intron variant T/A snv 0.72
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs879036238
rs879036238
ARF1 ; MIR3620
1.000 1 228097217 missense variant T/C snv
CUI: C4748602
Disease: PERIVENTRICULAR NODULAR HETEROTOPIA 8
PERIVENTRICULAR NODULAR HETEROTOPIA 8 		0.800 1.000 1 2016 2016
dbSNP: rs958476
rs958476
BARX2 ; LOC107984410
0.925 0.160 11 129451923 3 prime UTR variant T/A;G snv
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.700 1.000 1 2016 2016
dbSNP: rs958476
rs958476
BARX2 ; LOC107984410
0.925 0.160 11 129451923 3 prime UTR variant T/A;G snv
CUI: C0024143
Disease: Lupus Nephritis
Lupus Nephritis 		0.700 1.000 1 2016 2016
dbSNP: rs137852822
rs137852822
PCSK1 ; LOC101929710
1.000 0.120 5 96412452 stop gained C/A snv
CUI: C1833053
Disease: Proprotein Convertase 1 3 Deficiency
Proprotein Convertase 1 3 Deficiency 		0.700 0
dbSNP: rs1558087712
rs1558087712
ARF1 ; MIR3620
1.000 1 228097627 missense variant G/A snv
CUI: C4748602
Disease: PERIVENTRICULAR NODULAR HETEROTOPIA 8
PERIVENTRICULAR NODULAR HETEROTOPIA 8 		0.700 0