Source: ALL

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: rs587777893
rs587777893
0.658 0.240 1 11128107 missense variant G/A;T snv
CUI: C1846385
Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR
FOCAL CORTICAL DYSPLASIA OF TAYLOR
0.800 1.000 4 2015 2016
dbSNP: rs587777893
rs587777893
0.658 0.240 1 11128107 missense variant G/A;T snv
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding)
0.700 1.000 1 2016 2016
dbSNP: rs587777893
rs587777893
0.658 0.240 1 11128107 missense variant G/A;T snv
CUI: C1836599
Disease: Macrocephaly at birth
Macrocephaly at birth
0.700 1.000 1 2016 2016
dbSNP: rs587777893
rs587777893
0.658 0.240 1 11128107 missense variant G/A;T snv
CUI: C4476710
Disease: Delayed ability to sit
Delayed ability to sit
0.700 1.000 1 2016 2016
dbSNP: rs587777893
rs587777893
0.658 0.240 1 11128107 missense variant G/A;T snv
CUI: C1866134
Disease: Wide anterior fontanel
Wide anterior fontanel
0.700 1.000 1 2016 2016
dbSNP: rs587777893
rs587777893
0.658 0.240 1 11128107 missense variant G/A;T snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
0.700 1.000 1 2016 2016
dbSNP: rs587777893
rs587777893
0.658 0.240 1 11128107 missense variant G/A;T snv
CUI: C1860450
Disease: Calcaneovalgus deformity
Calcaneovalgus deformity
0.700 1.000 1 2016 2016
dbSNP: rs587777893
rs587777893
0.658 0.240 1 11128107 missense variant G/A;T snv
CUI: C0162834
Disease: Hyperpigmentation
Hyperpigmentation
0.700 1.000 1 2016 2016
dbSNP: rs587777893
rs587777893
0.658 0.240 1 11128107 missense variant G/A;T snv
CUI: C0009806
Disease: Constipation
Constipation
0.700 1.000 1 2016 2016
dbSNP: rs587777893
rs587777893
0.658 0.240 1 11128107 missense variant G/A;T snv
CUI: C0431369
Disease: Dysgenesis of corpus callosum
Dysgenesis of corpus callosum
0.700 1.000 1 2016 2016
dbSNP: rs587777893
rs587777893
0.658 0.240 1 11128107 missense variant G/A;T snv
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria
0.700 1.000 1 2016 2016
dbSNP: rs587777893
rs587777893
0.658 0.240 1 11128107 missense variant G/A;T snv
CUI: C4024854
Disease: Irregular hyperpigmentation of back
Irregular hyperpigmentation of back
0.700 1.000 1 2016 2016
dbSNP: rs587777893
rs587777893
0.658 0.240 1 11128107 missense variant G/A;T snv
Extra-axial cerebrospinal fluid accumulation
0.700 1.000 1 2016 2016
dbSNP: rs587777893
rs587777893
0.658 0.240 1 11128107 missense variant G/A;T snv
CUI: C2936786
Disease: Aqueductal Stenosis
Aqueductal Stenosis
0.700 1.000 1 2016 2016
dbSNP: rs587777893
rs587777893
0.658 0.240 1 11128107 missense variant G/A;T snv
CUI: C0566899
Disease: Small labia majora
Small labia majora
0.700 1.000 1 2016 2016
dbSNP: rs587777893
rs587777893
0.658 0.240 1 11128107 missense variant G/A;T snv
CUI: C0266491
Disease: Neuronal heterotopia
Neuronal heterotopia
0.700 1.000 1 2016 2016
dbSNP: rs587777893
rs587777893
0.658 0.240 1 11128107 missense variant G/A;T snv
CUI: C0151526
Disease: Premature Birth
Premature Birth
0.700 1.000 1 2016 2016
dbSNP: rs587777893
rs587777893
0.658 0.240 1 11128107 missense variant G/A;T snv
Malformations of Cortical Development, Group II
0.700 1.000 1 2016 2016
dbSNP: rs587777893
rs587777893
0.658 0.240 1 11128107 missense variant G/A;T snv
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding)
0.700 1.000 1 2016 2016
dbSNP: rs587777893
rs587777893
0.658 0.240 1 11128107 missense variant G/A;T snv
CUI: C1851085
Disease: Severe expressive language delay
Severe expressive language delay
0.700 1.000 1 2016 2016
dbSNP: rs587777893
rs587777893
0.658 0.240 1 11128107 missense variant G/A;T snv
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril
0.700 1.000 1 2016 2016
dbSNP: rs587777893
rs587777893
0.658 0.240 1 11128107 missense variant G/A;T snv
Delayed speech and language development
0.700 1.000 1 2016 2016
dbSNP: rs587777893
rs587777893
0.658 0.240 1 11128107 missense variant G/A;T snv
CUI: C4476709
Disease: Delayed ability to stand
Delayed ability to stand
0.700 1.000 1 2016 2016
dbSNP: rs587777893
rs587777893
0.658 0.240 1 11128107 missense variant G/A;T snv
CUI: C3532947
Disease: Severe receptive language delay
Severe receptive language delay
0.700 1.000 1 2016 2016
dbSNP: rs587777893
rs587777893
0.658 0.240 1 11128107 missense variant G/A;T snv
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay
0.700 1.000 1 2016 2016