rs1555493029, COG7

N. diseases: 10
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.
Abnormal isoelectric focusing of serum transferrin
CUI: C2749688
Disease: Abnormal isoelectric focusing of serum transferrin
10 0.851 0.240 16 23406263 splice acceptor variant C/A snv 0.700 0
Congenital disorder of glycosylation type 2E
CUI: C2931010
Disease: Congenital disorder of glycosylation type 2E
4 0.851 0.240 16 23406263 splice acceptor variant C/A snv 0.700 0
Congenital Nonbullous Ichthyosiform Erythroderma
CUI: C0079154
Disease: Congenital Nonbullous Ichthyosiform Erythroderma
16 0.851 0.240 16 23406263 splice acceptor variant C/A snv 0.700 0
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.851 0.240 16 23406263 splice acceptor variant C/A snv 0.700 0
Hypoplasia of corpus callosum
CUI: C0344482
Disease: Hypoplasia of corpus callosum
49 0.851 0.240 16 23406263 splice acceptor variant C/A snv 0.700 0
Intrauterine retardation
CUI: C1386048
Disease: Intrauterine retardation
56 0.851 0.240 16 23406263 splice acceptor variant C/A snv 0.700 0
Mild global developmental delay
CUI: C4012968
Disease: Mild global developmental delay
13 0.851 0.240 16 23406263 splice acceptor variant C/A snv 0.700 0
Nasogastric tube feeding in infancy
CUI: C4023343
Disease: Nasogastric tube feeding in infancy
9 0.851 0.240 16 23406263 splice acceptor variant C/A snv 0.700 0
Pediatric failure to thrive
CUI: C2315100
Disease: Pediatric failure to thrive
122 0.851 0.240 16 23406263 splice acceptor variant C/A snv 0.700 0
Recurrent infections in infancy and early childhood
CUI: C1844909
Disease: Recurrent infections in infancy and early childhood
2 0.851 0.240 16 23406263 splice acceptor variant C/A snv 0.700 0