PDLIM5, PDZ and LIM domain 5, 10611

N. diseases: 148; N. variants: 19
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: rs11731606
rs11731606 		4 94534108 intron variant C/T snv 0.24
CUI: C0200665
Disease: Platelet mean volume determination (procedure)
Platelet mean volume determination (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs1329032366
rs1329032366 		0.882 0.080 4 94654530 missense variant A/G snv 4.0E-06
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.010 1.000 1 2008 2008
dbSNP: rs4699299
rs4699299 		1.000 4 94580015 intron variant T/C snv 0.25
CUI: C2242776
Disease: Plexiform leiomyoma
Plexiform leiomyoma 		0.700 1.000 1 2019 2019
dbSNP: rs11097432
rs11097432 		1.000 0.080 4 94658554 intron variant T/C snv 0.24
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs12500426
rs12500426 		0.851 0.240 4 94593458 intron variant A/C snv 0.54
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs2452600
rs2452600 		0.925 0.080 4 94575731 missense variant C/T snv 0.27 0.25
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs373850074
rs373850074 		1.000 0.040 4 94654525 missense variant A/G snv 1.2E-04 7.0E-05
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		Cardiovascular Diseases 0.010 1.000 1 2004 2004
dbSNP: rs6532496
rs6532496 		4 94659253 intron variant C/T snv 0.57
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs767864210
rs767864210 		0.882 0.120 4 94657500 missense variant G/A;T snv 8.0E-05 2.1E-05
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2010 2010
dbSNP: rs2433322
rs2433322 		0.925 0.040 4 94458590 intron variant A/G snv 0.37
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.020 1.000 2 2006 2008
dbSNP: rs11097431
rs11097431 		0.925 0.040 4 94585691 synonymous variant G/A snv 0.18 0.22
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		Mental Disorders 0.010 < 0.001 1 2013 2013
dbSNP: rs11097431
rs11097431 		0.925 0.040 4 94585691 synonymous variant G/A snv 0.18 0.22
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 < 0.001 1 2013 2013
dbSNP: rs2433322
rs2433322 		0.925 0.040 4 94458590 intron variant A/G snv 0.37
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		Mental Disorders 0.010 1.000 1 2009 2009
dbSNP: rs2438146
rs2438146 		1.000 0.040 4 94474237 intron variant C/T snv 0.38
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		Mental Disorders 0.010 1.000 1 2009 2009
dbSNP: rs2452600
rs2452600 		0.925 0.080 4 94575731 missense variant C/T snv 0.27 0.25
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.010 1.000 1 2008 2008
dbSNP: rs7690296
rs7690296 		1.000 0.040 4 94640308 missense variant A/G snv 0.44 0.36
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2013 2013
dbSNP: rs368434732
rs368434732 		1.000 0.080 4 94587000 missense variant C/A;T snv 8.5E-06
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1329032366
rs1329032366 		0.882 0.080 4 94654530 missense variant A/G snv 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2008 2008
dbSNP: rs200298588
rs200298588 		1.000 0.040 4 94575722 missense variant G/A snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		Neoplasms 0.010 1.000 1 2008 2008
dbSNP: rs4699299
rs4699299 		1.000 4 94580015 intron variant T/C snv 0.25
CUI: C0042133
Disease: Uterine Fibroids
Uterine Fibroids 		Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs200495769
rs200495769 		1.000 0.120 4 94573377 missense variant C/T snv 1.0E-04 1.3E-04
CUI: C1961102
Disease: Precursor Cell Lymphoblastic Leukemia Lymphoma
Precursor Cell Lymphoblastic Leukemia Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 2016 2016
dbSNP: rs17021918
rs17021918 		0.776 0.240 4 94641726 intron variant C/T snv 0.30
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.700 1.000 2 2009 2018
dbSNP: rs12500426
rs12500426 		0.851 0.240 4 94593458 intron variant A/C snv 0.54
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.700 1.000 1 2009 2009
dbSNP: rs12500426
rs12500426 		0.851 0.240 4 94593458 intron variant A/C snv 0.54
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.700 1.000 1 2009 2009
dbSNP: rs17021918
rs17021918 		0.776 0.240 4 94641726 intron variant C/T snv 0.30
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.700 1.000 1 2009 2009