PDE1C, phosphodiesterase 1C, 5137

N. diseases: 41; N. variants: 57
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs2270221
rs2270221 		1.000 0.040 7 31864413 intron variant C/A;T snv
CUI: C0014175
Disease: Endometriosis
Endometriosis 		Female Urogenital Diseases and Pregnancy Complications 0.800 1.000 1 2013 2013
dbSNP: rs10236197
rs10236197 		7 32252149 intron variant T/C snv 0.41
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 3 2017 2019
dbSNP: rs215607
rs215607 		7 32298725 missense variant G/A snv 0.79 0.77
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 2 2018 2019
dbSNP: rs1014242
rs1014242 		7 32232693 intron variant C/T snv 0.54
CUI: C1519383
Disease: Smoking Behaviors
Smoking Behaviors 		Behavior and Behavior Mechanisms 0.700 1.000 1 2010 2010
dbSNP: rs10226228
rs10226228 		7 32276001 intron variant A/G snv 0.38
CUI: C1519383
Disease: Smoking Behaviors
Smoking Behaviors 		Behavior and Behavior Mechanisms 0.700 1.000 1 2010 2010
dbSNP: rs10236197
rs10236197 		7 32252149 intron variant T/C snv 0.41
CUI: C1519383
Disease: Smoking Behaviors
Smoking Behaviors 		Behavior and Behavior Mechanisms 0.700 1.000 1 2010 2010
dbSNP: rs10237735
rs10237735 		7 32337136 intron variant C/T snv 7.6E-02
CUI: C0202177
Disease: Phospholipid measurement
Phospholipid measurement 		0.700 1.000 1 2013 2013
dbSNP: rs10237735
rs10237735 		7 32337136 intron variant C/T snv 7.6E-02
CUI: C1281901
Disease: Fatty acid measurement
Fatty acid measurement 		0.700 1.000 1 2013 2013
dbSNP: rs10239506
rs10239506 		0.925 0.120 7 32177281 intron variant C/G snv 0.57
CUI: C0018099
Disease: Gout
Gout 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 1 2012 2012
dbSNP: rs10239506
rs10239506 		0.925 0.120 7 32177281 intron variant C/G snv 0.57
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 1 2012 2012
dbSNP: rs10259431
rs10259431 		7 32241785 intron variant C/T snv 0.54
CUI: C1519383
Disease: Smoking Behaviors
Smoking Behaviors 		Behavior and Behavior Mechanisms 0.700 1.000 1 2010 2010
dbSNP: rs10264177
rs10264177 		7 32331250 intron variant A/G snv 0.40
CUI: C1519383
Disease: Smoking Behaviors
Smoking Behaviors 		Behavior and Behavior Mechanisms 0.700 1.000 1 2010 2010
dbSNP: rs10951331
rs10951331 		7 32314762 intron variant A/G snv 0.22
CUI: C1519383
Disease: Smoking Behaviors
Smoking Behaviors 		Behavior and Behavior Mechanisms 0.700 1.000 1 2010 2010
dbSNP: rs12531858
rs12531858 		7 32300487 intron variant C/A;G snv
CUI: C1519383
Disease: Smoking Behaviors
Smoking Behaviors 		Behavior and Behavior Mechanisms 0.700 1.000 1 2010 2010
dbSNP: rs12540232
rs12540232 		7 32283349 intron variant T/C snv 0.40
CUI: C1519383
Disease: Smoking Behaviors
Smoking Behaviors 		Behavior and Behavior Mechanisms 0.700 1.000 1 2010 2010
dbSNP: rs12701204
rs12701204 		0.925 0.040 7 32248163 intron variant T/A snv 0.11
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		Musculoskeletal Diseases 0.700 1.000 1 2018 2018
dbSNP: rs12701204
rs12701204 		0.925 0.040 7 32248163 intron variant T/A snv 0.11
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2018 2018
dbSNP: rs1450869
rs1450869 		7 32272060 intron variant G/T snv 0.57
CUI: C1519383
Disease: Smoking Behaviors
Smoking Behaviors 		Behavior and Behavior Mechanisms 0.700 1.000 1 2010 2010
dbSNP: rs1450870
rs1450870 		7 32272114 intron variant T/A;C;G snv 0.50
CUI: C1519383
Disease: Smoking Behaviors
Smoking Behaviors 		Behavior and Behavior Mechanisms 0.700 1.000 1 2010 2010
dbSNP: rs1476765
rs1476765 		7 32280846 intron variant G/T snv 0.56
CUI: C1519383
Disease: Smoking Behaviors
Smoking Behaviors 		Behavior and Behavior Mechanisms 0.700 1.000 1 2010 2010
dbSNP: rs17161076
rs17161076 		7 32250953 intron variant A/G snv 0.25
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2015 2015
dbSNP: rs215596
rs215596 		7 32286761 intron variant A/G snv 0.50
CUI: C1519383
Disease: Smoking Behaviors
Smoking Behaviors 		Behavior and Behavior Mechanisms 0.700 1.000 1 2010 2010
dbSNP: rs215599
rs215599 		7 32290517 intron variant C/T snv 0.50
CUI: C1519383
Disease: Smoking Behaviors
Smoking Behaviors 		Behavior and Behavior Mechanisms 0.700 1.000 1 2010 2010
dbSNP: rs215600
rs215600 		7 32294030 intron variant G/A;C snv
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 1 2017 2017
dbSNP: rs215600
rs215600 		7 32294030 intron variant G/A;C snv
CUI: C1519383
Disease: Smoking Behaviors
Smoking Behaviors 		Behavior and Behavior Mechanisms 0.700 1.000 1 2010 2010