ATN1, atrophin 1, 1822

N. diseases: 499; N. variants: 6
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: rs1208917022
rs1208917022
1.000 0.040 12 6936663 missense variant A/G snv
CUI: C0004134
Disease: Ataxia
Ataxia
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2007 2007