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: 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: 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: 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: 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: 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: 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: 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: 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: 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