rs1567871748, PGAP3

N. diseases: 4
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.
Abnormality of head or neck
CUI: C4021817
Disease: Abnormality of head or neck
1 1.000 17 39674043 stop gained G/T snv 0.700 1.000 1 2019 2019
Congenital neurologic anomalies
CUI: C0497552
Disease: Congenital neurologic anomalies
4 1.000 17 39674043 stop gained G/T snv 0.700 1.000 1 2019 2019
Growth abnormality
CUI: C0262361
Disease: Growth abnormality
5 1.000 17 39674043 stop gained G/T snv 0.700 1.000 1 2019 2019
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4
CUI: C3810354
Disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4
14 1.000 17 39674043 stop gained G/T snv 0.700 1.000 1 2019 2019