rs1430860231, NT5C2

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.
SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE
CUI: C3888209
Disease: SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE
7 1.000 10 103090935 splice donor variant C/G snv 0.700 1.000 1 2014 2014