rs199469465, SRCAP

N. diseases: 50
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Abnormal eyelid morphology
CUI: C4021803
Disease: Abnormal eyelid morphology
3 0.672 0.560 16 30737343 stop gained C/A;T snv 0.700 0
Acid reflux
CUI: C4317146
Disease: Acid reflux
58 0.672 0.560 16 30737343 stop gained C/A;T snv 0.700 0
Aplasia/Hypoplasia of the nails
CUI: C1859077
Disease: Aplasia/Hypoplasia of the nails
4 0.672 0.560 16 30737343 stop gained C/A;T snv 0.700 0
Arthralgia
CUI: C0003862
Disease: Arthralgia
27 0.672 0.560 16 30737343 stop gained C/A;T snv 0.700 0
Bifid uvula
CUI: C4551488
Disease: Bifid uvula
7 0.672 0.560 16 30737343 stop gained C/A;T snv 0.700 0
Broad fingertip
CUI: C1968816
Disease: Broad fingertip
1 0.672 0.560 16 30737343 stop gained C/A;T snv 0.700 0
Broad toe
CUI: C1865038
Disease: Broad toe
2 0.672 0.560 16 30737343 stop gained C/A;T snv 0.700 0
Chronic otitis media
CUI: C0271441
Disease: Chronic otitis media
6 0.672 0.560 16 30737343 stop gained C/A;T snv 0.700 0
Clinodactyly of the 5th finger
CUI: C1850049
Disease: Clinodactyly of the 5th finger
39 0.672 0.560 16 30737343 stop gained C/A;T snv 0.700 0
Constipation
CUI: C0009806
Disease: Constipation
57 0.672 0.560 16 30737343 stop gained C/A;T snv 0.700 0
Delayed bone age
CUI: C0541764
Disease: Delayed bone age
14 0.672 0.560 16 30737343 stop gained C/A;T snv 0.700 0
Episodic vomiting
CUI: C1838993
Disease: Episodic vomiting
10 0.672 0.560 16 30737343 stop gained C/A;T snv 0.700 0
Exotropia
CUI: C0015310
Disease: Exotropia
23 0.672 0.560 16 30737343 stop gained C/A;T snv 0.700 0
Facial wart
CUI: C0343643
Disease: Facial wart
2 0.672 0.560 16 30737343 stop gained C/A;T snv 0.700 0
Feeding difficulties
CUI: C0232466
Disease: Feeding difficulties
62 0.672 0.560 16 30737343 stop gained C/A;T snv 0.700 0
Feeding difficulties in infancy
CUI: C2674608
Disease: Feeding difficulties in infancy
22 0.672 0.560 16 30737343 stop gained C/A;T snv 0.700 0
Floating-harbor syndrome
CUI: C0729582
Disease: Floating-harbor syndrome
6 0.672 0.560 16 30737343 stop gained C/A;T snv 0.700 0
Gliosis
CUI: C0017639
Disease: Gliosis
3 0.672 0.560 16 30737343 stop gained C/A;T snv 0.700 0
Hematuria
CUI: C0018965
Disease: Hematuria
31 0.672 0.560 16 30737343 stop gained C/A;T snv 0.700 0
Hyperhidrosis disorder
CUI: C0020458
Disease: Hyperhidrosis disorder
7 0.672 0.560 16 30737343 stop gained C/A;T snv 0.700 0
Hyperopia
CUI: C0020490
Disease: Hyperopia
29 0.672 0.560 16 30737343 stop gained C/A;T snv 0.700 0
Hyperopic astigmatism
CUI: C1847524
Disease: Hyperopic astigmatism
5 0.672 0.560 16 30737343 stop gained C/A;T snv 0.700 0
Left aortic arch with retroesophageal right subclavian artery
CUI: C4023278
Disease: Left aortic arch with retroesophageal right subclavian artery
1 0.672 0.560 16 30737343 stop gained C/A;T snv 0.700 0
Long eyelashes
CUI: C1853738
Disease: Long eyelashes
17 0.672 0.560 16 30737343 stop gained C/A;T snv 0.700 0
Malocclusion
CUI: C0024636
Disease: Malocclusion
10 0.672 0.560 16 30737343 stop gained C/A;T snv 0.700 0