rs1057519273, PLPBP

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.
EPILEPSY, EARLY-ONSET, VITAMIN B6-DEPENDENT
CUI: C4310632
Disease: EPILEPSY, EARLY-ONSET, VITAMIN B6-DEPENDENT
6 1.000 8 37765736 stop gained C/G snv 0.700 0