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: rs878854416
rs878854416
1.000 2 196242162 missense variant C/T snv
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE
0.800 1.000 1 2017 2017
dbSNP: rs878854417
rs878854417
1.000 2 196225800 missense variant G/A snv
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE
0.800 1.000 1 2017 2017
dbSNP: rs878854422
rs878854422
1.000 2 196242157 missense variant A/C snv
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE
0.800 1.000 1 2017 2017
dbSNP: rs1553629086
rs1553629086
1.000 2 196201282 missense variant C/T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 10 2005 2017
dbSNP: rs1553629086
rs1553629086
1.000 2 196201282 missense variant C/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 10 2005 2017
dbSNP: rs1553633403
rs1553633403
1.000 2 196225799 missense variant C/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 10 2005 2017
dbSNP: rs878854424
rs878854424
1.000 2 196220113 missense variant T/C snv
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE
0.700 1.000 1 2017 2017
dbSNP: rs9677260
rs9677260
1.000 0.040 2 196463011 intron variant G/T snv 0.23
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
Mental Disorders 0.700 1.000 1 2015 2015
dbSNP: rs2204640
rs2204640
1.000 0.080 2 196433508 intron variant C/G;T snv
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
Skin and Connective Tissue Diseases; Immune System Diseases 0.010 1.000 1 2011 2011