rs750959420, SETX

N. diseases: 2
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Cerebellar Ataxia
CUI: C0007758
Disease: Cerebellar Ataxia
120 1.000 0.080 9 132311820 frameshift variant CTCT/-;CT delins 4.0E-06; 2.4E-05 3.5E-05 0.700 0
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1
CUI: C1853761
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1
27 1.000 0.080 9 132311820 frameshift variant CTCT/-;CT delins 4.0E-06; 2.4E-05 3.5E-05 0.700 0