Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs397514619
rs397514619
0.925 0.080 X 153565081 missense variant G/A snv
CUI: C0796205
Disease: SPINOCEREBELLAR ATAXIA, X-LINKED 1
SPINOCEREBELLAR ATAXIA, X-LINKED 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 1 2012 2012
dbSNP: rs5987017
rs5987017
1.000 0.040 X 153516714 upstream gene variant A/G snv
CUI: C0009447
Disease: Common Variable Immunodeficiency
Common Variable Immunodeficiency
Immune System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs724160009
rs724160009
1.000 0.080 X 153548786 inframe deletion GCTGGT/- delins
Aldosterone-Producing Adrenal Cortex Adenoma
Neoplasms; Endocrine System Diseases 0.700 0
dbSNP: rs724160011
rs724160011
1.000 0.080 X 153548789 inframe deletion CTGGTC/- del
Aldosterone-Producing Adrenal Cortex Adenoma
Neoplasms; Endocrine System Diseases 0.700 0
dbSNP: rs724160012
rs724160012
1.000 0.080 X 153548790 inframe deletion TCGTGG/- delins
Aldosterone-Producing Adrenal Cortex Adenoma
Neoplasms; Endocrine System Diseases 0.700 0
dbSNP: rs782596945
rs782596945
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
dbSNP: rs782596945
rs782596945
0.851 0.120 X 153580229 missense variant G/A;T snv 5.5E-06
CUI: C0267071
Disease: Oropharyngeal Dysphagia
Oropharyngeal Dysphagia
Digestive System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs782596945
rs782596945
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
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
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
0.851 0.120 X 153580229 missense variant G/A;T snv 5.5E-06
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs782596945
rs782596945
0.851 0.120 X 153580229 missense variant G/A;T snv 5.5E-06
CUI: C0011334
Disease: Dental caries
Dental caries
Stomatognathic Diseases 0.700 0
dbSNP: rs782596945
rs782596945
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: rs397514619
rs397514619
0.925 0.080 X 153565081 missense variant G/A snv
CUI: C0852975
Disease: Congenital cerebellar ataxia
Congenital cerebellar ataxia
0.010 1.000 1 2012 2012