Source: CURATED

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: 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: 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: 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
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
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: C1860236
Disease: Irregular hyperpigmentation
Irregular hyperpigmentation
0.700 1.000 1 2016 2016
dbSNP: rs587777893
rs587777893
0.658 0.240 1 11128107 missense variant G/A;T snv
CUI: C4023681
Disease: Delayed fine motor development
Delayed fine motor development
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: 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: 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: 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: 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: 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
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: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia 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: 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: C1835764
Disease: Vertebral arch anomaly
Vertebral arch anomaly
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: C3278658
Disease: Linear hyperpigmentation
Linear hyperpigmentation
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: 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: 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: C1866245
Disease: Hyperpigmented streaks
Hyperpigmented streaks
0.700 1.000 1 2016 2016