rs869025322, PIGY;PYURF

N. diseases: 3
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 6
CUI: C4225201
Disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6
2 0.925 0.040 4 88521653 missense variant A/G snv 0.800 1.000 1 2015 2015
Congenital Abnormality
CUI: C0000768
Disease: Congenital Abnormality
73 0.925 0.040 4 88521653 missense variant A/G snv 0.010 1.000 1 2015 2015
Dysmorphism
CUI: C1737329
Disease: Dysmorphism
16 0.925 0.040 4 88521653 missense variant A/G snv 0.010 1.000 1 2015 2015