rs139073416, PIGV

N. diseases: 9
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 1
CUI: C4551502
Disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1
7 0.882 0.240 1 26795056 missense variant C/A;T snv 1.2E-04 0.800 1.000 5 2010 2014
Hyperphosphatasia with Mental Retardation
CUI: C1855923
Disease: Hyperphosphatasia with Mental Retardation
8 0.882 0.240 1 26795056 missense variant C/A;T snv 1.2E-04 0.700 1.000 5 2010 2014
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.882 0.240 1 26795056 missense variant C/A;T snv 1.2E-04 0.700 0
Long philtrum
CUI: C1865014
Disease: Long philtrum
16 0.882 0.240 1 26795056 missense variant C/A;T snv 1.2E-04 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.882 0.240 1 26795056 missense variant C/A;T snv 1.2E-04 0.700 0
Serum alkaline phosphatase raised
CUI: C1314665
Disease: Serum alkaline phosphatase raised
6 0.882 0.240 1 26795056 missense variant C/A;T snv 1.2E-04 0.700 0
Short nose
CUI: C1854114
Disease: Short nose
23 0.882 0.240 1 26795056 missense variant C/A;T snv 1.2E-04 0.700 0
Thin upper lip vermilion
CUI: C1865017
Disease: Thin upper lip vermilion
25 0.882 0.240 1 26795056 missense variant C/A;T snv 1.2E-04 0.700 0
Upward slant of palpebral fissure
CUI: C0423109
Disease: Upward slant of palpebral fissure
16 0.882 0.240 1 26795056 missense variant C/A;T snv 1.2E-04 0.700 0