rs1407446171, ITPA

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.
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35
CUI: C4225256
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35
3 1.000 20 3218578 frameshift variant -/TCAGCACC delins 3.5E-05 0.700 0