PDYN-AS1, PDYN antisense RNA 1, 727993

N. diseases: 9; N. variants: 22
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: rs267606939
rs267606939
1.000 0.080 20 1980445 missense variant G/A snv 1.2E-05 7.0E-06
CUI: C1853250
Disease: SPINOCEREBELLAR ATAXIA 23
SPINOCEREBELLAR ATAXIA 23
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 5 2010 2013
dbSNP: rs267606940
rs267606940
1.000 0.080 20 1980456 missense variant A/G snv 2.0E-05 1.4E-05
CUI: C1853250
Disease: SPINOCEREBELLAR ATAXIA 23
SPINOCEREBELLAR ATAXIA 23
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 5 2010 2013
dbSNP: rs267606941
rs267606941
1.000 0.080 20 1980674 missense variant C/A snv 5.6E-05 7.7E-05
CUI: C1853250
Disease: SPINOCEREBELLAR ATAXIA 23
SPINOCEREBELLAR ATAXIA 23
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 5 2010 2013
dbSNP: rs201486601
rs201486601
1.000 0.080 20 1980454 missense variant G/A snv 3.6E-05 2.1E-05
CUI: C1853250
Disease: SPINOCEREBELLAR ATAXIA 23
SPINOCEREBELLAR ATAXIA 23
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 1 2010 2010
dbSNP: rs575606358
rs575606358
1.000 0.080 20 1980472 missense variant G/A snv 1.2E-04 6.3E-05
CUI: C1853250
Disease: SPINOCEREBELLAR ATAXIA 23
SPINOCEREBELLAR ATAXIA 23
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 4 2010 2013
dbSNP: rs1539189
rs1539189
20 1966633 intron variant A/G snv 2.0E-02
CUI: C1704436
Disease: Peripheral Arterial Diseases
Peripheral Arterial Diseases
Cardiovascular Diseases 0.700 1.000 1 2016 2016
dbSNP: rs185387034
rs185387034
20 1970274 intron variant A/G snv 4.6E-03
Platelet mean volume determination (procedure)
0.700 1.000 1 2016 2016
dbSNP: rs4411786
rs4411786
20 1950251 intron variant T/A;C;G snv
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure
0.700 1.000 1 2019 2019
dbSNP: rs4411786
rs4411786
20 1950251 intron variant T/A;C;G snv
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement
0.700 1.000 1 2016 2016
dbSNP: rs4618126
rs4618126
20 1950239 intron variant G/A snv 0.43
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement
0.700 1.000 1 2016 2016
dbSNP: rs6035310
rs6035310
20 2007953 intron variant A/C;T snv
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
Cardiovascular Diseases 0.700 1.000 1 2008 2008
dbSNP: rs6045612
rs6045612
20 1950355 intron variant C/T snv 0.43
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test)
0.700 1.000 1 2016 2016
dbSNP: rs6081597
rs6081597
20 2014888 intron variant A/G snv 2.9E-02
CUI: C2699541
Disease: Cytokine Measurement
Cytokine Measurement
0.700 1.000 1 2012 2012
dbSNP: rs1004881058
rs1004881058
1.000 0.080 20 1980471 missense variant C/T snv 8.0E-06 7.0E-06
CUI: C1853250
Disease: SPINOCEREBELLAR ATAXIA 23
SPINOCEREBELLAR ATAXIA 23
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs773876922
rs773876922
1.000 0.080 20 1983020 missense variant C/T snv 1.6E-05 4.2E-05
CUI: C1853250
Disease: SPINOCEREBELLAR ATAXIA 23
SPINOCEREBELLAR ATAXIA 23
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1022563
rs1022563
0.925 0.080 20 1973693 intron variant C/G;T snv
CUI: C0524662
Disease: Opiate Addiction
Opiate Addiction
Chemically-Induced Disorders; Mental Disorders 0.040 0.750 4 2009 2019
dbSNP: rs1997794
rs1997794
0.851 0.120 20 1994212 5 prime UTR variant T/C snv 0.50
CUI: C0524662
Disease: Opiate Addiction
Opiate Addiction
Chemically-Induced Disorders; Mental Disorders 0.030 0.667 3 2009 2019
dbSNP: rs1997794
rs1997794
0.851 0.120 20 1994212 5 prime UTR variant T/C snv 0.50
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic
Chemically-Induced Disorders; Mental Disorders 0.020 1.000 2 2013 2018
dbSNP: rs2235751
rs2235751
0.882 0.120 20 1989288 intron variant A/G snv 0.40
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic
Chemically-Induced Disorders; Mental Disorders 0.020 1.000 2 2013 2017
dbSNP: rs2281285
rs2281285
0.925 0.080 20 1991814 intron variant T/C snv 0.16
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic
Chemically-Induced Disorders; Mental Disorders 0.020 1.000 2 2013 2015
dbSNP: rs910080
rs910080
0.851 0.120 20 1979580 3 prime UTR variant A/G snv 0.35
CUI: C0524662
Disease: Opiate Addiction
Opiate Addiction
Chemically-Induced Disorders; Mental Disorders 0.020 1.000 2 2018 2019
dbSNP: rs1022563
rs1022563
0.925 0.080 20 1973693 intron variant C/G;T snv
CUI: C0019337
Disease: Heroin Dependence
Heroin Dependence
Chemically-Induced Disorders; Mental Disorders 0.010 1.000 1 2011 2011
dbSNP: rs1280296282
rs1280296282
1.000 0.080 20 1982967 missense variant T/C snv 4.0E-06 1.4E-05
CUI: C0600241
Disease: heroin abuse
heroin abuse
Chemically-Induced Disorders; Mental Disorders 0.010 1.000 1 2006 2006
dbSNP: rs1997794
rs1997794
0.851 0.120 20 1994212 5 prime UTR variant T/C snv 0.50
CUI: C0011265
Disease: Presenile dementia
Presenile dementia
Nervous System Diseases; Mental Disorders 0.010 1.000 1 2009 2009
dbSNP: rs1997794
rs1997794
0.851 0.120 20 1994212 5 prime UTR variant T/C snv 0.50
CUI: C0497327
Disease: Dementia
Dementia
Nervous System Diseases; Mental Disorders 0.010 1.000 1 2009 2009