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: 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: rs137852823
rs137852823
PCSK1 ; LOC101929710
1.000 0.120 5 96416102 inframe deletion TGC/- delins
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
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: rs201871537
rs201871537
DST ; DST-AS1
1.000 6 56851414 missense variant G/T snv
CUI: C3539003
Disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI 		0.700 0
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: rs3019793
rs3019793
BARX2 ; LOC107984410
1.000 0.080 11 129445691 intron variant A/G snv 0.38
CUI: C0027404
Disease: Narcolepsy
Narcolepsy 		0.700 1.000 1 2009 2009
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: 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: 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: C0005893
Disease: Body mass index procedure
Body mass index procedure 		0.700 1.000 1 2012 2012
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: 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: 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: 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: 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: 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: 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: 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: 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