PDYN, prodynorphin, 5173

N. diseases: 197; N. variants: 13
Disease: SPINOCEREBELLAR ATAXIA 23 ×
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: 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