rs587777776, PSAT1

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.
NEU-LAXOVA SYNDROME 2
CUI: C4015019
Disease: NEU-LAXOVA SYNDROME 2
4 1.000 9 78328996 frameshift variant CCGGG/AGACCT delins 0.700 0