rs373728971, SPTBN2

N. diseases: 1
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.
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14
CUI: C3809327
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14
3 1.000 11 66701231 frameshift variant GTGAG/-;GTGAGGTGAG delins 0.700 0