NACC1, nucleus accumbens associated 1, 112939

N. diseases: 34; N. variants: 1
Disease: Muscle hypotonia ×
Source: CLINVAR ×
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: rs1060505041
rs1060505041 		0.716 0.400 19 13136099 missense variant C/A;T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 3 2014 2017