rs782596945, ATP2B3

N. diseases: 8
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 the cerebral cortex
CUI: C4025701
Disease: Abnormality of the cerebral cortex
8 0.851 0.120 X 153580229 missense variant G/A;T snv 5.5E-06 0.700 0
Dental caries
CUI: C0011334
Disease: Dental caries
126 0.851 0.120 X 153580229 missense variant G/A;T snv 5.5E-06 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.851 0.120 X 153580229 missense variant G/A;T snv 5.5E-06 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.851 0.120 X 153580229 missense variant G/A;T snv 5.5E-06 0.700 0
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.851 0.120 X 153580229 missense variant G/A;T snv 5.5E-06 0.700 0
Oropharyngeal Dysphagia
CUI: C0267071
Disease: Oropharyngeal Dysphagia
8 0.851 0.120 X 153580229 missense variant G/A;T snv 5.5E-06 0.700 0
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.851 0.120 X 153580229 missense variant G/A;T snv 5.5E-06 0.700 0
Skeletal muscle atrophy
CUI: C0541794
Disease: Skeletal muscle atrophy
12 0.851 0.120 X 153580229 missense variant G/A;T snv 5.5E-06 0.700 0