rs1553197230, CTSK

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.
Pycnodysostosis
CUI: C0238402
Disease: Pycnodysostosis
36 1.000 0.120 1 150804020 splice donor variant C/T snv 0.700 0