rs1555575860, COG4

N. diseases: 31
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.
SAUL-WILSON SYNDROME
CUI: C1300285
Disease: SAUL-WILSON SYNDROME
1 0.732 0.240 16 70496367 missense variant C/G;T snv 0.800 1.000 1 2018 2018
Abnormal cochlea morphology
CUI: C4025858
Disease: Abnormal cochlea morphology
1 0.732 0.240 16 70496367 missense variant C/G;T snv 0.700 0
Aplasia/Hypoplasia of the middle phalanges of the hand
1 0.732 0.240 16 70496367 missense variant C/G;T snv 0.700 0
Apraxia of Phonation
CUI: C0264611
Disease: Apraxia of Phonation
9 0.732 0.240 16 70496367 missense variant C/G;T snv 0.700 0
Apraxias
CUI: C0003635
Disease: Apraxias
9 0.732 0.240 16 70496367 missense variant C/G;T snv 0.700 0
Bilateral talipes equinovarus
CUI: C1837835
Disease: Bilateral talipes equinovarus
6 0.732 0.240 16 70496367 missense variant C/G;T snv 0.700 0
Birth length less than 3rd percentile
13 0.732 0.240 16 70496367 missense variant C/G;T snv 0.700 0
Blue sclera
CUI: C0542514
Disease: Blue sclera
13 0.732 0.240 16 70496367 missense variant C/G;T snv 0.700 0
CATARACT 5, MULTIPLE TYPES
CUI: C3888417
Disease: CATARACT 5, MULTIPLE TYPES
9 0.732 0.240 16 70496367 missense variant C/G;T snv 0.700 0
Cervical spinal canal stenosis
CUI: C1844925
Disease: Cervical spinal canal stenosis
2 0.732 0.240 16 70496367 missense variant C/G;T snv 0.700 0
Congenital bilateral ptosis
CUI: C1836264
Disease: Congenital bilateral ptosis
1 0.732 0.240 16 70496367 missense variant C/G;T snv 0.700 0
Congenital clubfoot
CUI: C0009081
Disease: Congenital clubfoot
44 0.732 0.240 16 70496367 missense variant C/G;T snv 0.700 0
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj
6 0.732 0.240 16 70496367 missense variant C/G;T snv 0.700 0
Dilatated internal auditory canal
CUI: C2676973
Disease: Dilatated internal auditory canal
2 0.732 0.240 16 70496367 missense variant C/G;T snv 0.700 0
Dilated vestibule of the inner ear
CUI: C4023387
Disease: Dilated vestibule of the inner ear
1 0.732 0.240 16 70496367 missense variant C/G;T snv 0.700 0
Enlarged semicircular canal
CUI: C4021156
Disease: Enlarged semicircular canal
1 0.732 0.240 16 70496367 missense variant C/G;T snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.732 0.240 16 70496367 missense variant C/G;T snv 0.700 0
Growth delay
CUI: C0456070
Disease: Growth delay
40 0.732 0.240 16 70496367 missense variant C/G;T snv 0.700 0
Induced vaginal delivery
CUI: C4072908
Disease: Induced vaginal delivery
10 0.732 0.240 16 70496367 missense variant C/G;T snv 0.700 0
Intrauterine retardation
CUI: C1386048
Disease: Intrauterine retardation
56 0.732 0.240 16 70496367 missense variant C/G;T snv 0.700 0
Isolated somatotropin deficiency
CUI: C3714796
Disease: Isolated somatotropin deficiency
27 0.732 0.240 16 70496367 missense variant C/G;T snv 0.700 0
Poor suck
CUI: C1837142
Disease: Poor suck
31 0.732 0.240 16 70496367 missense variant C/G;T snv 0.700 0
Premature Birth
CUI: C0151526
Disease: Premature Birth
50 0.732 0.240 16 70496367 missense variant C/G;T snv 0.700 0
Prominent forehead
CUI: C1837260
Disease: Prominent forehead
25 0.732 0.240 16 70496367 missense variant C/G;T snv 0.700 0
Prominent scalp veins
CUI: C1856542
Disease: Prominent scalp veins
1 0.732 0.240 16 70496367 missense variant C/G;T snv 0.700 0