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: rs566921725
rs566921725
PCSK1 ; LOC101929710
5 96412752 intron variant -/GTTGTTTTTTTTTTTT delins
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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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