BORCS5, BLOC-1 related complex subunit 5, 118426

N. diseases: 12; N. variants: 2
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61923561
rs61923561
Entrez Id: 118426
Gene Symbol: BORCS5
BORCS5
CUI: C0200635
Disease:
Lymphocyte Count measurement
A 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs1555155556
rs1555155556
Entrez Id: 118426
Gene Symbol: BORCS5
BORCS5
CUI: C0266464
Disease:
Polymicrogyria
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1555155556
rs1555155556
Entrez Id: 118426
Gene Symbol: BORCS5
BORCS5
CUI: C4551563
Disease:
Microcephaly (physical finding)
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1555155556
rs1555155556
Entrez Id: 118426
Gene Symbol: BORCS5
BORCS5
CUI: C4025701
Disease:
Abnormality of the cerebral cortex
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1555155556
rs1555155556
Entrez Id: 118426
Gene Symbol: BORCS5
BORCS5
CUI: C0557874
Disease:
Global developmental delay
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1555155556
rs1555155556
Entrez Id: 118426
Gene Symbol: BORCS5
BORCS5
CUI: C0036572
Disease:
Seizures
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1555155556
rs1555155556
Entrez Id: 118426
Gene Symbol: BORCS5
BORCS5
CUI: C0175754
Disease:
Agenesis of corpus callosum
T 0.700 GeneticVariation CLINVAR