rs771409809, WFS1

N. diseases: 19
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.
Abnormality of the cervical spine
CUI: C1852464
Disease: Abnormality of the cervical spine
4 0.732 0.480 4 6301794 stop gained C/T snv 6.0E-05 7.0E-06 0.700 0
Abnormality of the diaphragm
CUI: C1848873
Disease: Abnormality of the diaphragm
2 0.732 0.480 4 6301794 stop gained C/T snv 6.0E-05 7.0E-06 0.700 0
Abnormality of the vertebral column
CUI: C4021789
Disease: Abnormality of the vertebral column
5 0.732 0.480 4 6301794 stop gained C/T snv 6.0E-05 7.0E-06 0.700 0
Arachnodactyly
CUI: C0003706
Disease: Arachnodactyly
25 0.732 0.480 4 6301794 stop gained C/T snv 6.0E-05 7.0E-06 0.700 0
Cerebellar vermis hypoplasia
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
26 0.732 0.480 4 6301794 stop gained C/T snv 6.0E-05 7.0E-06 0.700 0
Dandy-Walker Syndrome
CUI: C0010964
Disease: Dandy-Walker Syndrome
9 0.732 0.480 4 6301794 stop gained C/T snv 6.0E-05 7.0E-06 0.700 0
Diaphragmatic Eventration
CUI: C0011981
Disease: Diaphragmatic Eventration
6 0.732 0.480 4 6301794 stop gained C/T snv 6.0E-05 7.0E-06 0.700 0
Dilatation of ureter
CUI: C0521620
Disease: Dilatation of ureter
2 0.732 0.480 4 6301794 stop gained C/T snv 6.0E-05 7.0E-06 0.700 0
Feeding difficulties
CUI: C0232466
Disease: Feeding difficulties
62 0.732 0.480 4 6301794 stop gained C/T snv 6.0E-05 7.0E-06 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.732 0.480 4 6301794 stop gained C/T snv 6.0E-05 7.0E-06 0.700 0
Globe retraction and deviation on adduction
CUI: C1846464
Disease: Globe retraction and deviation on adduction
3 0.732 0.480 4 6301794 stop gained C/T snv 6.0E-05 7.0E-06 0.700 0
Hydronephrosis
CUI: C0020295
Disease: Hydronephrosis
18 0.732 0.480 4 6301794 stop gained C/T snv 6.0E-05 7.0E-06 0.700 0
Laryngomalacia
CUI: C0264303
Disease: Laryngomalacia
18 0.732 0.480 4 6301794 stop gained C/T snv 6.0E-05 7.0E-06 0.700 0
Microglossia
CUI: C0025988
Disease: Microglossia
2 0.732 0.480 4 6301794 stop gained C/T snv 6.0E-05 7.0E-06 0.700 0
Micrognathism
CUI: C0025990
Disease: Micrognathism
53 0.732 0.480 4 6301794 stop gained C/T snv 6.0E-05 7.0E-06 0.700 0
Nyctalopia
CUI: C0028077
Disease: Nyctalopia
18 0.732 0.480 4 6301794 stop gained C/T snv 6.0E-05 7.0E-06 0.700 0
Sensorineural Hearing Loss (disorder)
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
111 0.732 0.480 4 6301794 stop gained C/T snv 6.0E-05 7.0E-06 0.700 0
Small hand
CUI: C0575802
Disease: Small hand
31 0.732 0.480 4 6301794 stop gained C/T snv 6.0E-05 7.0E-06 0.700 0
Uranostaphyloschisis
CUI: C2981150
Disease: Uranostaphyloschisis
75 0.732 0.480 4 6301794 stop gained C/T snv 6.0E-05 7.0E-06 0.700 0