ATXN3, ataxin 3, 4287

N. diseases: 207; N. variants: 12
Disease: Peripheral Nervous System Diseases ×
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: rs141672872
rs141672872 		1.000 0.080 14 92083151 missense variant C/T snv 6.8E-05 1.3E-04
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases 		Nervous System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs762622537
rs762622537 		1.000 0.080 14 92081048 missense variant G/C snv 4.0E-06
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases 		Nervous System Diseases 0.010 1.000 1 2010 2010