EXOC6B, exocyst complex component 6B, 23233

N. diseases: 63; N. variants: 5
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs138296890
rs138296890
Entrez Id: 23233
Gene Symbol: EXOC6B
EXOC6B
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Characterizing rare and low-frequency height-associated variants in the Japanese population. 31562340 2019
dbSNP: rs1064795104
rs1064795104
Entrez Id: 23233
Gene Symbol: EXOC6B
EXOC6B
CUI: C0263401
Disease:
Cutis marmorata 		C 0.700 GeneticVariation CLINVAR Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation. 23422942 2013
dbSNP: rs1064795104
rs1064795104
Entrez Id: 23233
Gene Symbol: EXOC6B
EXOC6B
CUI: C0263401
Disease:
Cutis marmorata 		C 0.700 GeneticVariation CLINVAR Mosaic deletion of EXOC6B: further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability. 25256811 2014
dbSNP: rs10193543
rs10193543
Entrez Id: 23233
Gene Symbol: EXOC6B
EXOC6B
CUI: C0428883
Disease:
Diastolic blood pressure 		T 0.700 GeneticVariation GWASCAT Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits. 30224653 2018
dbSNP: rs1064795104
rs1064795104
Entrez Id: 23233
Gene Symbol: EXOC6B
EXOC6B
CUI: C0424503
Disease:
Dysmorphic facies 		C 0.700 GeneticVariation CLINVAR Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation. 23422942 2013
dbSNP: rs1064795104
rs1064795104
Entrez Id: 23233
Gene Symbol: EXOC6B
EXOC6B
CUI: C0424503
Disease:
Dysmorphic facies 		C 0.700 GeneticVariation CLINVAR Mosaic deletion of EXOC6B: further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability. 25256811 2014
dbSNP: rs1553417206
rs1553417206
Entrez Id: 23233
Gene Symbol: EXOC6B
EXOC6B
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 GeneticVariation CLINVAR A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene. 26669664 2016
dbSNP: rs1064795104
rs1064795104
Entrez Id: 23233
Gene Symbol: EXOC6B
EXOC6B
CUI: C0013595
Disease:
Eczema 		C 0.700 GeneticVariation CLINVAR Mosaic deletion of EXOC6B: further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability. 25256811 2014
dbSNP: rs1064795104
rs1064795104
Entrez Id: 23233
Gene Symbol: EXOC6B
EXOC6B
CUI: C0013595
Disease:
Eczema 		C 0.700 GeneticVariation CLINVAR Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation. 23422942 2013
dbSNP: rs1064795104
rs1064795104
Entrez Id: 23233
Gene Symbol: EXOC6B
EXOC6B
CUI: C1963101
Disease:
Encephalopathy, CTCAE 3.0 		C 0.700 GeneticVariation CLINVAR Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation. 23422942 2013
dbSNP: rs1064795104
rs1064795104
Entrez Id: 23233
Gene Symbol: EXOC6B
EXOC6B
CUI: C1963101
Disease:
Encephalopathy, CTCAE 3.0 		C 0.700 GeneticVariation CLINVAR Mosaic deletion of EXOC6B: further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability. 25256811 2014
dbSNP: rs1064795104
rs1064795104
Entrez Id: 23233
Gene Symbol: EXOC6B
EXOC6B
CUI: C1306710
Disease:
Facial asymmetry 		C 0.700 GeneticVariation CLINVAR Mosaic deletion of EXOC6B: further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability. 25256811 2014
dbSNP: rs1064795104
rs1064795104
Entrez Id: 23233
Gene Symbol: EXOC6B
EXOC6B
CUI: C1306710
Disease:
Facial asymmetry 		C 0.700 GeneticVariation CLINVAR Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation. 23422942 2013
dbSNP: rs1064795104
rs1064795104
Entrez Id: 23233
Gene Symbol: EXOC6B
EXOC6B
CUI: C0557874
Disease:
Global developmental delay 		C 0.700 GeneticVariation CLINVAR Mosaic deletion of EXOC6B: further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability. 25256811 2014
dbSNP: rs1064795104
rs1064795104
Entrez Id: 23233
Gene Symbol: EXOC6B
EXOC6B
CUI: C0557874
Disease:
Global developmental delay 		C 0.700 GeneticVariation CLINVAR Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation. 23422942 2013
dbSNP: rs9309464
rs9309464
Entrez Id: 23233
Gene Symbol: EXOC6B
EXOC6B
CUI: C0025295
Disease:
Meningitis, Pneumococcal 		0.010 GeneticVariation BEFREE Our strongest signals associated with susceptibility to pneumococcal meningitis were rs139064549 on chromosome 1 in the COL11A1 gene (p = 1.51 × 10(-6); G allele OR 3.21 [95% CI 2.05-5.02]) and rs9309464 in the EXOC6B gene on chromosome 2 (p = 6.01 × 10(-5); G allele OR 0.66 [95% CI 0.54-0.81]). 27389768 2016
dbSNP: rs1064795104
rs1064795104
Entrez Id: 23233
Gene Symbol: EXOC6B
EXOC6B
CUI: C4551563
Disease:
Microcephaly (physical finding) 		C 0.700 GeneticVariation CLINVAR Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation. 23422942 2013
dbSNP: rs1064795104
rs1064795104
Entrez Id: 23233
Gene Symbol: EXOC6B
EXOC6B
CUI: C4551563
Disease:
Microcephaly (physical finding) 		C 0.700 GeneticVariation CLINVAR Mosaic deletion of EXOC6B: further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability. 25256811 2014
dbSNP: rs1553417206
rs1553417206
Entrez Id: 23233
Gene Symbol: EXOC6B
EXOC6B
CUI: C0026650
Disease:
Movement Disorders 		C 0.700 GeneticVariation CLINVAR A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene. 26669664 2016
dbSNP: rs1064795104
rs1064795104
Entrez Id: 23233
Gene Symbol: EXOC6B
EXOC6B
CUI: C0027092
Disease:
Myopia 		C 0.700 GeneticVariation CLINVAR Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation. 23422942 2013
dbSNP: rs1064795104
rs1064795104
Entrez Id: 23233
Gene Symbol: EXOC6B
EXOC6B
CUI: C0027092
Disease:
Myopia 		C 0.700 GeneticVariation CLINVAR Mosaic deletion of EXOC6B: further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability. 25256811 2014
dbSNP: rs1064795104
rs1064795104
Entrez Id: 23233
Gene Symbol: EXOC6B
EXOC6B
CUI: C0028738
Disease:
Nystagmus 		C 0.700 GeneticVariation CLINVAR Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation. 23422942 2013
dbSNP: rs1064795104
rs1064795104
Entrez Id: 23233
Gene Symbol: EXOC6B
EXOC6B
CUI: C0028738
Disease:
Nystagmus 		C 0.700 GeneticVariation CLINVAR Mosaic deletion of EXOC6B: further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability. 25256811 2014
dbSNP: rs1064795104
rs1064795104
Entrez Id: 23233
Gene Symbol: EXOC6B
EXOC6B
CUI: C0029453
Disease:
Osteopenia 		C 0.700 GeneticVariation CLINVAR Mosaic deletion of EXOC6B: further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability. 25256811 2014
dbSNP: rs1064795104
rs1064795104
Entrez Id: 23233
Gene Symbol: EXOC6B
EXOC6B
CUI: C0029453
Disease:
Osteopenia 		C 0.700 GeneticVariation CLINVAR Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation. 23422942 2013