rs763305896, 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 103105782 frameshift variant GT/- delins 8.0E-06 7.0E-06 0.700 0