rs1555155556, BORCS5

N. diseases: 6
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 cerebral cortex
CUI: C4025701
Disease: Abnormality of the cerebral cortex
8 0.851 0.120 12 12435627 splice acceptor variant G/T snv 0.700 0
Agenesis of corpus callosum
CUI: C0175754
Disease: Agenesis of corpus callosum
45 0.851 0.120 12 12435627 splice acceptor variant G/T snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.851 0.120 12 12435627 splice acceptor variant G/T snv 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.851 0.120 12 12435627 splice acceptor variant G/T snv 0.700 0
Polymicrogyria
CUI: C0266464
Disease: Polymicrogyria
29 0.851 0.120 12 12435627 splice acceptor variant G/T snv 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.851 0.120 12 12435627 splice acceptor variant G/T snv 0.700 0