ATXN7, ataxin 7, 6314

N. diseases: 162; N. variants: 13
Disease: Spinocerebellar Ataxia Type 7 ×
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: rs1390860312
rs1390860312 		1.000 0.080 3 63982229 missense variant G/A snv 7.0E-06
CUI: C0752125
Disease: Spinocerebellar Ataxia Type 7
Spinocerebellar Ataxia Type 7 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs6798742
rs6798742 		1.000 0.080 3 63918083 intron variant A/G snv 0.42
CUI: C0752125
Disease: Spinocerebellar Ataxia Type 7
Spinocerebellar Ataxia Type 7 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2017 2017