SACS, sacsin molecular chaperone, 26278

N. diseases: 106; N. variants: 252
Disease: Cerebellar atrophy ×
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: rs746194271
rs746194271 		1.000 13 23331188 missense variant C/A;T snv 8.0E-06
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.010 1.000 1 2017 2017
dbSNP: rs767622491
rs767622491 		0.925 0.280 13 23331215 missense variant G/C snv 8.0E-06
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.010 1.000 1 2017 2017