rs398124286, 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.
Amyotrophic Lateral Sclerosis 4, Juvenile
CUI: C1865409
Disease: Amyotrophic Lateral Sclerosis 4, Juvenile
8 0.925 0.120 9 132277144 splice acceptor variant CTGT/-;CTGTCTGT delins 3.5E-05 0.700 1.000 2 2009 2014
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1
CUI: C1853761
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1
27 0.925 0.120 9 132277144 splice acceptor variant CTGT/-;CTGTCTGT delins 3.5E-05 0.700 1.000 2 2009 2014