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: rs199469465
rs199469465
SRCAP
0.672 0.560 16 30737343 stop gained C/A;T snv
CUI: C0017639
Disease: Gliosis
Gliosis 		0.700 0
dbSNP: rs199469465
rs199469465
SRCAP
0.672 0.560 16 30737343 stop gained C/A;T snv
CUI: C1853738
Disease: Long eyelashes
Long eyelashes 		0.700 0
dbSNP: rs199469465
rs199469465
SRCAP
0.672 0.560 16 30737343 stop gained C/A;T snv
CUI: C0025990
Disease: Micrognathism
Micrognathism 		0.700 0
dbSNP: rs199469465
rs199469465
SRCAP
0.672 0.560 16 30737343 stop gained C/A;T snv
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		0.700 0
dbSNP: rs199469465
rs199469465
SRCAP
0.672 0.560 16 30737343 stop gained C/A;T snv
CUI: C0241397
Disease: Triphalangeal thumb
Triphalangeal thumb 		0.700 0
dbSNP: rs199469465
rs199469465
SRCAP
0.672 0.560 16 30737343 stop gained C/A;T snv
CUI: C0024636
Disease: Malocclusion
Malocclusion 		0.700 0
dbSNP: rs199469465
rs199469465
SRCAP
0.672 0.560 16 30737343 stop gained C/A;T snv
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		0.700 0
dbSNP: rs199469465
rs199469465
SRCAP
0.672 0.560 16 30737343 stop gained C/A;T snv
CUI: C4022873
Disease: Small pituitary gland
Small pituitary gland 		0.700 0
dbSNP: rs199469465
rs199469465
SRCAP
0.672 0.560 16 30737343 stop gained C/A;T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 0
dbSNP: rs199469465
rs199469465
SRCAP
0.672 0.560 16 30737343 stop gained C/A;T snv
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		0.700 0
dbSNP: rs199469465
rs199469465
SRCAP
0.672 0.560 16 30737343 stop gained C/A;T snv
CUI: C1849735
Disease: Underfolded helix
Underfolded helix 		0.700 0
dbSNP: rs199469465
rs199469465
SRCAP
0.672 0.560 16 30737343 stop gained C/A;T snv
CUI: C3887499
Disease: Renal cyst
Renal cyst 		0.700 0
dbSNP: rs199469465
rs199469465
SRCAP
0.672 0.560 16 30737343 stop gained C/A;T snv
CUI: C4022658
Disease: Punctate periventricular T2 hyperintense foci
Punctate periventricular T2 hyperintense foci 		0.700 0
dbSNP: rs199469465
rs199469465
SRCAP
0.672 0.560 16 30737343 stop gained C/A;T snv
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		0.700 0
dbSNP: rs199469465
rs199469465
SRCAP
0.672 0.560 16 30737343 stop gained C/A;T snv
CUI: C1847524
Disease: Hyperopic astigmatism
Hyperopic astigmatism 		0.700 0
dbSNP: rs199469465
rs199469465
SRCAP
0.672 0.560 16 30737343 stop gained C/A;T snv
CUI: C0343643
Disease: Facial wart
Facial wart 		0.700 0
dbSNP: rs199469465
rs199469465
SRCAP
0.672 0.560 16 30737343 stop gained C/A;T snv
CUI: C4317146
Disease: Acid reflux
Acid reflux 		0.700 0
dbSNP: rs199469465
rs199469465
SRCAP
0.672 0.560 16 30737343 stop gained C/A;T snv
CUI: C4021803
Disease: Abnormal eyelid morphology
Abnormal eyelid morphology 		0.700 0
dbSNP: rs199469465
rs199469465
SRCAP
0.672 0.560 16 30737343 stop gained C/A;T snv
CUI: C0015310
Disease: Exotropia
Exotropia 		0.700 0
dbSNP: rs199469465
rs199469465
SRCAP
0.672 0.560 16 30737343 stop gained C/A;T snv
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		0.700 0
dbSNP: rs199469465
rs199469465
SRCAP
0.672 0.560 16 30737343 stop gained C/A;T snv
CUI: C4012968
Disease: Mild global developmental delay
Mild global developmental delay 		0.700 0
dbSNP: rs199469465
rs199469465
SRCAP
0.672 0.560 16 30737343 stop gained C/A;T snv
CUI: C0009806
Disease: Constipation
Constipation 		0.700 0
dbSNP: rs199469465
rs199469465
SRCAP
0.672 0.560 16 30737343 stop gained C/A;T snv
CUI: C0020458
Disease: Hyperhidrosis disorder
Hyperhidrosis disorder 		0.700 0
dbSNP: rs199469465
rs199469465
SRCAP
0.672 0.560 16 30737343 stop gained C/A;T snv
CUI: C1859077
Disease: Aplasia/Hypoplasia of the nails
Aplasia/Hypoplasia of the nails 		0.700 0
dbSNP: rs199469465
rs199469465
SRCAP
0.672 0.560 16 30737343 stop gained C/A;T snv
CUI: C1835807
Disease: Prominent fingertip pads
Prominent fingertip pads 		0.700 0