Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs782596945
rs782596945
ATP2B3
0.851 0.120 X 153580229 missense variant G/A;T snv 5.5E-06
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs782596945
rs782596945
ATP2B3
0.851 0.120 X 153580229 missense variant G/A;T snv 5.5E-06
CUI: C0011334
Disease: Dental caries
Dental caries 		0.700 0
dbSNP: rs782596945
rs782596945
ATP2B3
0.851 0.120 X 153580229 missense variant G/A;T snv 5.5E-06
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		0.700 0
dbSNP: rs782596945
rs782596945
ATP2B3
0.851 0.120 X 153580229 missense variant G/A;T snv 5.5E-06
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs782596945
rs782596945
ATP2B3
0.851 0.120 X 153580229 missense variant G/A;T snv 5.5E-06
CUI: C0267071
Disease: Oropharyngeal Dysphagia
Oropharyngeal Dysphagia 		0.700 0
dbSNP: rs782596945
rs782596945
ATP2B3
0.851 0.120 X 153580229 missense variant G/A;T snv 5.5E-06
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 0
dbSNP: rs782596945
rs782596945
ATP2B3
0.851 0.120 X 153580229 missense variant G/A;T snv 5.5E-06
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs782596945
rs782596945
ATP2B3
0.851 0.120 X 153580229 missense variant G/A;T snv 5.5E-06
CUI: C4025701
Disease: Abnormality of the cerebral cortex
Abnormality of the cerebral cortex 		0.700 0