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: 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: 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: 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: 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: 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: rs10083460
rs10083460
EGLN3 ; LOC105370446 ; LOC107987210
1.000 0.040 14 33964015 intron variant C/A snv 0.43
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 1.000 1 2017 2017
dbSNP: rs116969723
rs116969723
LRRC3 ; LRRC3-DT
1.000 0.080 21 44456833 synonymous variant G/A snv 1.5E-02 6.3E-03
CUI: C0007766
Disease: Intracranial Aneurysm
Intracranial Aneurysm 		0.700 1.000 1 2019 2019
dbSNP: rs11853189
rs11853189
DNAJA4 ; LOC105370910
15 78273478 intron variant C/T snv 8.5E-02
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2016 2016
dbSNP: rs11853189
rs11853189
DNAJA4 ; LOC105370910
15 78273478 intron variant C/T snv 8.5E-02
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 1 2016 2016
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: 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: rs1680679
rs1680679
EGLN3 ; LOC107987210
1.000 0.040 14 33965501 intron variant G/A snv 0.19
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 1.000 1 2017 2017
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: rs1769628
rs1769628
EGLN3 ; LOC107987210
1.000 0.040 14 33965427 intron variant T/A snv 0.28
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 1.000 1 2017 2017
dbSNP: rs185968827
rs185968827
DST ; DST-AS1
1.000 0.080 6 56843712 intron variant T/A;G snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.700 1.000 1 2016 2016
dbSNP: rs1961456
rs1961456
NAT2
8 18398199 intron variant A/G snv 0.33
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2017 2017
dbSNP: rs1961456
rs1961456
NAT2
8 18398199 intron variant A/G snv 0.33
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
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