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: 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 0 2015 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: C0239234
Disease: Low set ears
Low set ears
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: C1837397
Disease: Severe global developmental delay
Severe global developmental delay
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: 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
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
CUI: C1844925
Disease: Cervical spinal canal stenosis
Cervical spinal canal stenosis
0.700 1.000 1 2016 2016
dbSNP: rs587777893
rs587777893
0.658 0.240 1 11128107 missense variant G/A;T snv
CUI: C1856019
Disease: Abnormal cortical gyration
Abnormal cortical gyration
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: C1866245
Disease: Hyperpigmented streaks
Hyperpigmented streaks
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: 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: 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: C0009451
Disease: Communicating Hydrocephalus
Communicating Hydrocephalus
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
CUI: C0085207
Disease: Gestational Diabetes
Gestational Diabetes
0.700 1.000 1 2016 2016
dbSNP: rs587777893
rs587777893
0.658 0.240 1 11128107 missense variant G/A;T snv
CUI: C1844505
Disease: Pointed chin
Pointed chin
0.700 1.000 1 2016 2016
dbSNP: rs587777893
rs587777893
0.658 0.240 1 11128107 missense variant G/A;T snv
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay
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: C2243051
Disease: Large head (disorder)
Large head (disorder)
0.700 1.000 1 2016 2016
dbSNP: rs587777893
rs587777893
0.658 0.240 1 11128107 missense variant G/A;T snv
Morphological abnormality of the central nervous system
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: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding)
0.700 1.000 1 2016 2016