rs1569509136, HUWE1

N. diseases: 24
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 sternum
CUI: C1860493
Disease: Abnormality of the sternum
11 0.708 0.400 X 53647576 splice acceptor variant T/C snv 0.700 0
Autistic behavior
CUI: C0856975
Disease: Autistic behavior
78 0.708 0.400 X 53647576 splice acceptor variant T/C snv 0.700 0
Blepharophimosis
CUI: C0005744
Disease: Blepharophimosis
15 0.708 0.400 X 53647576 splice acceptor variant T/C snv 0.700 0
Blepharoptosis
CUI: C0005745
Disease: Blepharoptosis
57 0.708 0.400 X 53647576 splice acceptor variant T/C snv 0.700 0
Clinodactyly of the 5th finger
CUI: C1850049
Disease: Clinodactyly of the 5th finger
39 0.708 0.400 X 53647576 splice acceptor variant T/C snv 0.700 0
Congenital Camptodactyly
CUI: C0685409
Disease: Congenital Camptodactyly
10 0.708 0.400 X 53647576 splice acceptor variant T/C snv 0.700 0
Flat occiput
CUI: C1837402
Disease: Flat occiput
6 0.708 0.400 X 53647576 splice acceptor variant T/C snv 0.700 0
Flatfoot
CUI: C0016202
Disease: Flatfoot
38 0.708 0.400 X 53647576 splice acceptor variant T/C snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.708 0.400 X 53647576 splice acceptor variant T/C snv 0.700 0
High, narrow palate
CUI: C1837404
Disease: High, narrow palate
21 0.708 0.400 X 53647576 splice acceptor variant T/C snv 0.700 0
Low set ears
CUI: C0239234
Disease: Low set ears
64 0.708 0.400 X 53647576 splice acceptor variant T/C snv 0.700 0
Malar flattening
CUI: C1858085
Disease: Malar flattening
12 0.708 0.400 X 53647576 splice acceptor variant T/C snv 0.700 0
Mental Retardation, X-Linked, Syndromic, Turner Type
CUI: C2678046
Disease: Mental Retardation, X-Linked, Syndromic, Turner Type
25 0.708 0.400 X 53647576 splice acceptor variant T/C snv 0.700 0
Micrognathism
CUI: C0025990
Disease: Micrognathism
53 0.708 0.400 X 53647576 splice acceptor variant T/C snv 0.700 0
Microstomia
CUI: C0026034
Disease: Microstomia
9 0.708 0.400 X 53647576 splice acceptor variant T/C snv 0.700 0
Nasal bridge wide
CUI: C1849367
Disease: Nasal bridge wide
29 0.708 0.400 X 53647576 splice acceptor variant T/C snv 0.700 0
Orbital separation diminished
CUI: C0424711
Disease: Orbital separation diminished
11 0.708 0.400 X 53647576 splice acceptor variant T/C snv 0.700 0
Penile hypospadias
CUI: C1691215
Disease: Penile hypospadias
83 0.708 0.400 X 53647576 splice acceptor variant T/C snv 0.700 0
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.708 0.400 X 53647576 splice acceptor variant T/C snv 0.700 0
Say Meyer syndrome
CUI: C1839125
Disease: Say Meyer syndrome
1 0.708 0.400 X 53647576 splice acceptor variant T/C snv 0.700 0
Short neck
CUI: C0521525
Disease: Short neck
29 0.708 0.400 X 53647576 splice acceptor variant T/C snv 0.700 0
Strabismus
CUI: C0038379
Disease: Strabismus
89 0.708 0.400 X 53647576 splice acceptor variant T/C snv 0.700 0
Tented upper lip vermilion
CUI: C1839767
Disease: Tented upper lip vermilion
8 0.708 0.400 X 53647576 splice acceptor variant T/C snv 0.700 0
Trigonocephaly
CUI: C0265535
Disease: Trigonocephaly
7 0.708 0.400 X 53647576 splice acceptor variant T/C snv 0.700 0