PDYN, prodynorphin, 5173

N. diseases: 197; N. variants: 13
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: 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