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: rs11165924
rs11165924
DPYD
1 97909892 intron variant A/G snv 0.23
CUI: C1314691
Disease: Age at menarche
Age at menarche 		0.700 1.000 2 2014 2019
dbSNP: rs10875120
rs10875120
DPYD ; MIR137HG ; LINC01930
1 97934347 intron variant G/T snv 0.72
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.700 1.000 1 2019 2019
dbSNP: rs12047563
rs12047563
DPYD ; LOC105378867
1 97388977 intron variant C/A snv 0.19
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs12072739
rs12072739
DPYD
1 97850337 intron variant A/C;G snv
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs17378539
rs17378539
DPYD
1 97743554 intron variant T/C snv 0.12
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs4128473
rs4128473
DPYD ; DPYD-AS1
1 97207282 intron variant T/C snv 0.22
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2013 2013
dbSNP: rs4379706
rs4379706
DPYD
1 97856823 non coding transcript exon variant C/T snv 0.72
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs6656660
rs6656660
DPYD ; DPYD-AS1
1 97183653 intron variant G/T snv 0.21
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2013 2013
dbSNP: rs6663751
rs6663751
DPYD
1 97412887 intron variant C/A snv 0.10
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs7529372
rs7529372
DPYD ; DPYD-AS1
1 97181782 intron variant C/T snv 0.21
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2013 2013
dbSNP: rs75641275
rs75641275
DPYD
1 97861577 intron variant A/C snv 0.10
CUI: C0424574
Disease: Duration of sleep
Duration of sleep 		0.700 1.000 1 2018 2018
dbSNP: rs75641275
rs75641275
DPYD
1 97861577 intron variant A/C snv 0.10
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs76586805
rs76586805
DPYD
1 97864883 intron variant T/C snv 7.0E-02
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs78164635
rs78164635
DPYD
1 97823025 intron variant T/C;G snv
CUI: C0021704
Disease: Intelligence
Intelligence 		0.700 1.000 1 2019 2019
dbSNP: rs9659380
rs9659380
DPYD ; MIR137HG
1 97957593 intron variant G/A snv 0.84
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.700 1.000 1 2019 2019
dbSNP: rs1801265
rs1801265
DPYD
0.763 0.280 1 97883329 missense variant A/G snv 0.28
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2018 2018
dbSNP: rs1801265
rs1801265
DPYD
0.763 0.280 1 97883329 missense variant A/G snv 0.28
CUI: C1959620
Disease: Dihydropyrimidine Dehydrogenase Deficiency
Dihydropyrimidine Dehydrogenase Deficiency 		0.710 1.000 0 2019 2019
dbSNP: rs72549310
rs72549310
DPYD
1.000 0.080 1 97883353 stop gained G/A snv 1.2E-05
CUI: C1959620
Disease: Dihydropyrimidine Dehydrogenase Deficiency
Dihydropyrimidine Dehydrogenase Deficiency 		0.700 1.000 3 2003 2014
dbSNP: rs1057516357
rs1057516357
DPYD
1.000 0.080 1 97573759 splice donor variant C/A snv
CUI: C1959620
Disease: Dihydropyrimidine Dehydrogenase Deficiency
Dihydropyrimidine Dehydrogenase Deficiency 		0.700 1.000 1 2005 2005
dbSNP: rs1057516968
rs1057516968
DPYD
1.000 0.080 1 97515785 stop gained G/A snv 8.0E-06 3.5E-05
CUI: C1959620
Disease: Dihydropyrimidine Dehydrogenase Deficiency
Dihydropyrimidine Dehydrogenase Deficiency 		0.700 1.000 1 2016 2016
dbSNP: rs11165851
rs11165851
DPYD ; LOC105378867
1.000 0.080 1 97380021 intron variant T/A snv 0.93
CUI: C0027404
Disease: Narcolepsy
Narcolepsy 		0.700 1.000 1 2009 2009
dbSNP: rs11165867
rs11165867
DPYD
1.000 0.040 1 97412512 intron variant C/T snv 0.16
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.700 1.000 1 2018 2018
dbSNP: rs141597515
rs141597515
DPYD
1.000 0.080 1 97828139 stop gained G/A snv 1.6E-05 3.5E-05
CUI: C1959620
Disease: Dihydropyrimidine Dehydrogenase Deficiency
Dihydropyrimidine Dehydrogenase Deficiency 		0.700 1.000 1 2014 2014
dbSNP: rs146170505
rs146170505
DPYD
1.000 0.080 1 97699370 stop gained C/A snv 3.2E-05 7.0E-06
CUI: C1959620
Disease: Dihydropyrimidine Dehydrogenase Deficiency
Dihydropyrimidine Dehydrogenase Deficiency 		0.700 1.000 1 2014 2014
dbSNP: rs1553201476
rs1553201476
DPYD
1.000 0.080 1 97593304 frameshift variant CA/- delins
CUI: C1959620
Disease: Dihydropyrimidine Dehydrogenase Deficiency
Dihydropyrimidine Dehydrogenase Deficiency 		0.700 1.000 1 2002 2002