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.
Branchio-Oculo-Facial Syndrome
CUI: C0376524
Disease: Branchio-Oculo-Facial Syndrome
16 0.724 0.400 6 10404509 missense variant T/A;C;G snv 4.6E-06 0.810 1.000 3 2008 2015
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 0.724 0.400 6 10404509 missense variant T/A;C;G snv 4.6E-06 0.700 1.000 6 1995 2015
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
350 0.724 0.400 6 10404509 missense variant T/A;C;G snv 4.6E-06 0.700 1.000 6 1995 2015
Abnormality of the middle ear ossicles
CUI: C1836678
Disease: Abnormality of the middle ear ossicles
1 0.724 0.400 6 10404509 missense variant T/A;C;G snv 4.6E-06 0.700 1.000 1 2015 2015
Branchial anomaly
CUI: C1862066
Disease: Branchial anomaly
3 0.724 0.400 6 10404509 missense variant T/A;C;G snv 4.6E-06 0.700 1.000 1 2015 2015
Cleft palate, isolated
CUI: C1837218
Disease: Cleft palate, isolated
70 0.724 0.400 6 10404509 missense variant T/A;C;G snv 4.6E-06 0.700 1.000 1 2015 2015
Cleft upper lip
CUI: C0008924
Disease: Cleft upper lip
282 0.724 0.400 6 10404509 missense variant T/A;C;G snv 4.6E-06 0.700 1.000 1 2015 2015
Coloboma of the Retina
CUI: C3540764
Disease: Coloboma of the Retina
3 0.724 0.400 6 10404509 missense variant T/A;C;G snv 4.6E-06 0.700 1.000 1 2015 2015
Conductive hearing loss, bilateral
CUI: C0452136
Disease: Conductive hearing loss, bilateral
3 0.724 0.400 6 10404509 missense variant T/A;C;G snv 4.6E-06 0.700 1.000 1 2015 2015
Dilatated internal auditory canal
CUI: C2676973
Disease: Dilatated internal auditory canal
2 0.724 0.400 6 10404509 missense variant T/A;C;G snv 4.6E-06 0.700 1.000 1 2015 2015
Long narrow head
CUI: C0221358
Disease: Long narrow head
26 0.724 0.400 6 10404509 missense variant T/A;C;G snv 4.6E-06 0.700 1.000 1 2015 2015
Stenosis of nasolacrimal duct
CUI: C0238300
Disease: Stenosis of nasolacrimal duct
2 0.724 0.400 6 10404509 missense variant T/A;C;G snv 4.6E-06 0.700 1.000 1 2015 2015
Strabismus
CUI: C0038379
Disease: Strabismus
89 0.724 0.400 6 10404509 missense variant T/A;C;G snv 4.6E-06 0.700 1.000 1 2015 2015
Bifid scrotum
CUI: C0341787
Disease: Bifid scrotum
2 0.724 0.400 6 10404509 missense variant T/A;C;G snv 4.6E-06 0.700 0
Micropenis
CUI: C4551492
Disease: Micropenis
21 0.724 0.400 6 10404509 missense variant T/A;C;G snv 4.6E-06 0.700 0
Penile hypospadias
CUI: C1691215
Disease: Penile hypospadias
83 0.724 0.400 6 10404509 missense variant T/A;C;G snv 4.6E-06 0.700 0
Port-Wine Stain
CUI: C0235752
Disease: Port-Wine Stain
10 0.724 0.400 6 10404509 missense variant T/A;C;G snv 4.6E-06 0.700 0