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 medulla oblongata
CUI: C4021148
Disease: Abnormality of the medulla oblongata
2 0.882 0.200 3 48467284 stop gained G/A snv 0.700 1.000 1 2016 2016
Abnormality of the periventricular white matter
CUI: C2673431
Disease: Abnormality of the periventricular white matter
7 0.882 0.200 3 48467284 stop gained G/A snv 0.700 1.000 1 2016 2016
AICARDI-GOUTIERES SYNDROME 1
CUI: C0796126
Disease: AICARDI-GOUTIERES SYNDROME 1
26 0.882 0.200 3 48467284 stop gained G/A snv 0.700 1.000 1 2016 2016
Cerebellar Hypoplasia
CUI: C0266470
Disease: Cerebellar Hypoplasia
26 0.882 0.200 3 48467284 stop gained G/A snv 0.700 1.000 1 2016 2016
Cortical gyral simplification
CUI: C2749675
Disease: Cortical gyral simplification
2 0.882 0.200 3 48467284 stop gained G/A snv 0.700 1.000 1 2016 2016
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.882 0.200 3 48467284 stop gained G/A snv 0.700 1.000 1 2016 2016
Hypoplasia of the brainstem
CUI: C1842688
Disease: Hypoplasia of the brainstem
3 0.882 0.200 3 48467284 stop gained G/A snv 0.700 1.000 1 2016 2016
Seizures
CUI: C0036572
Disease: Seizures
553 0.882 0.200 3 48467284 stop gained G/A snv 0.700 1.000 1 2016 2016