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.
Aplasia/Hypoplasia of the cerebellar vermis
CUI: C1855676
Disease: Aplasia/Hypoplasia of the cerebellar vermis
2 0.807 0.280 21 37480785 stop gained -/A delins 0.700 0
Clinodactyly of the 5th finger
CUI: C1850049
Disease: Clinodactyly of the 5th finger
39 0.807 0.280 21 37480785 stop gained -/A delins 0.700 0
Enlarged cisterna magna
CUI: C1853377
Disease: Enlarged cisterna magna
4 0.807 0.280 21 37480785 stop gained -/A delins 0.700 0
Hypoplasia of corpus callosum
CUI: C0344482
Disease: Hypoplasia of corpus callosum
49 0.807 0.280 21 37480785 stop gained -/A delins 0.700 0
Long palpebral fissure
CUI: C1849340
Disease: Long palpebral fissure
10 0.807 0.280 21 37480785 stop gained -/A delins 0.700 0
Low anterior hairline
CUI: C1842366
Disease: Low anterior hairline
17 0.807 0.280 21 37480785 stop gained -/A delins 0.700 0
Macular degeneration
CUI: C0024437
Disease: Macular degeneration
16 0.807 0.280 21 37480785 stop gained -/A delins 0.700 0
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
CUI: C3279839
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
39 0.807 0.280 21 37480785 stop gained -/A delins 0.700 0
Narrow forehead
CUI: C1839758
Disease: Narrow forehead
20 0.807 0.280 21 37480785 stop gained -/A delins 0.700 0
Orbital separation excessive
CUI: C0020534
Disease: Orbital separation excessive
77 0.807 0.280 21 37480785 stop gained -/A delins 0.700 0
Penile hypospadias
CUI: C1691215
Disease: Penile hypospadias
83 0.807 0.280 21 37480785 stop gained -/A delins 0.700 0
Prominent nasal bridge
CUI: C1854113
Disease: Prominent nasal bridge
8 0.807 0.280 21 37480785 stop gained -/A delins 0.700 0
Syndactyly of fingers
CUI: C0221352
Disease: Syndactyly of fingers
12 0.807 0.280 21 37480785 stop gained -/A delins 0.700 0
Underdeveloped nasal alae
CUI: C1834055
Disease: Underdeveloped nasal alae
8 0.807 0.280 21 37480785 stop gained -/A delins 0.700 0