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: rs12722725
rs12722725
PPM1J ; LOC105378910
1 112716059 non coding transcript exon variant T/C snv 8.9E-02
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 3 2019 2019
dbSNP: rs12125471
rs12125471
NEGR1 ; ZRANB2-AS2
1 71441857 intron variant C/T snv 7.7E-02
CUI: C0021704
Disease: Intelligence
Intelligence 		0.700 1.000 1 2019 2019
dbSNP: rs12736457
rs12736457
PPM1J ; LOC105378910
1 112715671 upstream gene variant C/G snv 8.9E-02
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs17091269
rs17091269
NEGR1 ; ZRANB2-AS2
1 71484220 intron variant C/T snv 0.20
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
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: 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: 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
dbSNP: rs1558087795
rs1558087795
ARF1 ; MIR3620
1.000 1 228097710 missense variant A/G snv
CUI: C4748602
Disease: PERIVENTRICULAR NODULAR HETEROTOPIA 8
PERIVENTRICULAR NODULAR HETEROTOPIA 8 		0.700 0
dbSNP: rs2072590
rs2072590
HAGLR ; HAGLROS
0.851 0.120 2 176177905 non coding transcript exon variant A/C;T snv
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.720 1.000 2 2010 2017
dbSNP: rs2072590
rs2072590
HAGLR ; HAGLROS
0.851 0.120 2 176177905 non coding transcript exon variant A/C;T snv
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.720 1.000 2 2010 2017
dbSNP: rs2072590
rs2072590
HAGLR ; HAGLROS
0.851 0.120 2 176177905 non coding transcript exon variant A/C;T snv
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer 		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: 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: rs137852821
rs137852821
PCSK1 ; LOC101929710
1.000 0.120 5 96399020 missense variant C/T snv
CUI: C1833053
Disease: Proprotein Convertase 1 3 Deficiency
Proprotein Convertase 1 3 Deficiency 		0.800 1.000 3 1997 2007
dbSNP: rs137852824
rs137852824
PCSK1 ; LOC101929710
1.000 0.120 5 96410949 missense variant G/A snv 1.2E-05 7.0E-06
CUI: C1833053
Disease: Proprotein Convertase 1 3 Deficiency
Proprotein Convertase 1 3 Deficiency 		0.800 1.000 3 1997 2007
dbSNP: rs6235
rs6235
PCSK1 ; LOC101929710
0.925 0.120 5 96393194 missense variant C/G snv 0.26 0.23
CUI: C0202098
Disease: Insulin measurement
Insulin measurement 		0.800 1.000 2 2011 2013
dbSNP: rs6235
rs6235
PCSK1 ; LOC101929710
0.925 0.120 5 96393194 missense variant C/G snv 0.26 0.23
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 2 2019 2019
dbSNP: rs10062657
rs10062657
CAST ; LOC101929710
5 96532204 intron variant C/A snv 0.78
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2017 2017
dbSNP: rs11951673
rs11951673
CAST ; LOC101929710
5 96525308 non coding transcript exon 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: rs11951673
rs11951673
CAST ; LOC101929710
5 96525308 non coding transcript exon variant C/T snv 0.39
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs11951673
rs11951673
CAST ; LOC101929710
5 96525308 non coding transcript exon 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: 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