rs760848629, PIGO

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.
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2
CUI: C3553637
Disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2
15 1.000 9 35091696 frameshift variant G/-;GG delins 0.700 0