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.
Absent speech
CUI: C1854882
Disease: Absent speech
72 0.827 0.120 8 91071136 splice acceptor variant A/G snv 0.700 0
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 0.827 0.120 8 91071136 splice acceptor variant A/G snv 0.700 0
Epilepsy
CUI: C0014544
Disease: Epilepsy
339 0.827 0.120 8 91071136 splice acceptor variant A/G snv 0.700 0
Flat occiput
CUI: C1837402
Disease: Flat occiput
6 0.827 0.120 8 91071136 splice acceptor variant A/G snv 0.700 0
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES
CUI: C4479520
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES
5 0.827 0.120 8 91071136 splice acceptor variant A/G snv 0.700 0
Long eyelashes
CUI: C1853738
Disease: Long eyelashes
17 0.827 0.120 8 91071136 splice acceptor variant A/G snv 0.700 0
Long philtrum
CUI: C1865014
Disease: Long philtrum
16 0.827 0.120 8 91071136 splice acceptor variant A/G snv 0.700 0
Macrotia
CUI: C0152421
Disease: Macrotia
18 0.827 0.120 8 91071136 splice acceptor variant A/G snv 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.827 0.120 8 91071136 splice acceptor variant A/G snv 0.700 0
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.827 0.120 8 91071136 splice acceptor variant A/G snv 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.827 0.120 8 91071136 splice acceptor variant A/G snv 0.700 0
Severe global developmental delay
CUI: C1837397
Disease: Severe global developmental delay
50 0.827 0.120 8 91071136 splice acceptor variant A/G snv 0.700 0
Sunken eyes
CUI: C0423224
Disease: Sunken eyes
54 0.827 0.120 8 91071136 splice acceptor variant A/G snv 0.700 0
Syndactyly of the toes
CUI: C0265660
Disease: Syndactyly of the toes
11 0.827 0.120 8 91071136 splice acceptor variant A/G snv 0.700 0
Thin upper lip vermilion
CUI: C1865017
Disease: Thin upper lip vermilion
25 0.827 0.120 8 91071136 splice acceptor variant A/G snv 0.700 0