rs12320537 Rat Genome Database
Welcome
Sign In
Message Center
1 Messages
Go to Message Center
Watched Genes
Watched Ontology Terms
×
Save List to My RGD
Create Name:
Description:
You must be logged in to use this feature
Subscribe to Updates
Select categories you would like to watch. Updates to this gene will be sent to Sign In
Analyze List
×
Gene Annotator (Functional Annotation)
unavailable
Gene Annotator (Annotation Distribution)
unavailable
Variant Visualizer (Genomic Variants)
unavailable
InterViewer (Protein-Protein Interactions)
unavailable
Gviewer (Genome Viewer)
unavailable
Variant Visualizer (Damaging Variants)
unavailable
Gene Annotator (Annotation Comparison)
unavailable
OLGA (Gene List Generator)
unavailable
Excel (Download)
MOET (Multi-Ontology Enrichement)
unavailable
GOLF (Gene-Ortholog Location Finder)
unavailable
x
Send Message
x
Send us a Message
Your email
Message
Send
Submit Data
|
Help
|
Video Tutorials
|
News
|
Publications
|
Download
|
REST API
|
Citing RGD
|
Contact
Home
Search RGD
Grant Resources
Citing RGD
About Us
Contact Us
Data
Genes
Variants
Community Projects
QTLs
Strains
Markers
Genome Information
Ontologies
Cell Lines
References
Download
Submit Data
Analysis & Visualization
OntoMate (Literature Search)
JBrowse (Genome Browser)
Synteny Browser (VCMap)
Variant Visualizer
Multi-Ontology Enrichment (MOET)
Gene-Ortholog Location Finder (GOLF)
InterViewer (Protein-Protein Interactions)
PhenoMiner (Quatitative Phenotypes)
Gene Annotator
OLGA (Gene List Generator)
AllianceMine
GViewer (Genome Viewer)
Diseases
Aging & Age-Related Disease
Cancer & Neoplastic Disease
Cardiovascular Disease
Coronavirus Disease
Developmental Disease
Diabetes
Hematologic Disease
Immune & Inflammatory Disease
Infectious Disease
Liver Disease
Neurological Disease
Obesity & Metabolic Syndrome
Renal Disease
Respiratory Disease
Sensory Organ Disease
Phenotypes & Models
Find Models
Genetic Models
Autism Models
Rat PhenoMiner (Quantitative Phenotypes)
Chinchilla PhenoMiner
Expected Ranges (Quantitative Phenotype)
PhenoMiner Term Comparison
Hybrid Rat Diversity Panel
Phenotypes
Phenotypes in Other Animal Models
Animal Husbandry
Strain Medical Records
Phylogenetics
Strain Availability
Calendar
Rats 101
Submissions
Photo Archive
Pathways
Community
Rat Community Forum
Directory of Rat Laboratories
Video Tutorials
News
RGD Publications
RGD Presentations Archive
Nomenclature Guidelines
Resource Links
Laboratory Resources
Employment Resources
Advanced Search (OLGA)
Summary
ClinVar Data
Experimental Factor
GWAS QTLs Related by Peak
Variant Details
Variant Transcripts
Variant Samples
Additional Information
External Database Links
Variant: rs12320537 - Homo sapiens
RGD ID:
150336567
RS ID:
rs12320537
ClinVar ID:
CV1172461
Genic Status:
GENIC
Type:
SNV
(SO:0001483)
Associated Genes:
B4GALNT1
Reference Nucleotide:
G
Variant Nucleotide:
C
Position
Assembly
Chr
Position
GRCh37
12
58,021,091
GRCh38
12
57,627,308
JBrowse:
View Region in Genome Browser (JBrowse)
Model
Annotation
Click to see Annotation Summary View
ClinVar Data
HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_001276468.2:c.1219+310C>G
NM_001478.5:c.1384+310C>G
NG_033849.1:g.10932C>G
NC_000012.12:g.57627308G>C
NC_000012.11:g.58021091G>C
More...
06/26/2018
intron variant
benign
none provided
Experimental Factor Annotations
Click to see Annotation Summary View
1 to 1 of 1 rows
10
20
30
40
100
All Rows
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV1172461
Human
cortical thickness
IAGP
405850206
GWAS_CATALOG
PMID:32310165
1 to 1 of 1 rows
10
20
30
40
100
All Rows
GWAS QTLs Related by Peak Marker
1 to 1 of 1 rows
10
20
30
40
100
All Rows
Data has come from the GWAS Catalog
Download
QTL
GWAS Catalog Study
Disease Trait
Study Size
Risk Allele
Risk Allele Frequency
P Value
P Value MLOG
Peak Marker
Reported Odds Ratio or Beta-coefficient
Ontology Accession
PubMed
GWAS1138281_H
GCST010041
Cortical thickness
919 European ancestry individuals
C
0.252
0.000001
6
rs12320537
0.034
cortical thickness
(EFO:0004840)
PMID:
32310165
1 to 1 of 1 rows
10
20
30
40
100
All Rows
Variant Details
Variant Transcripts
Gene Symbol:
B4GALNT1
Accession:
NM_001276469
Location:
INTRON
Gene Symbol:
B4GALNT1
Accession:
XM_005268773
Location:
INTRON
Gene Symbol:
B4GALNT1
Accession:
NM_001413982
Location:
INTRON
Gene Symbol:
B4GALNT1
Accession:
NM_001413971
Location:
INTRON
Gene Symbol:
B4GALNT1
Accession:
XM_024448928
Location:
INTRON
Gene Symbol:
B4GALNT1
Accession:
NM_001413977
Location:
INTRON
Gene Symbol:
B4GALNT1
Accession:
XM_047428680
Location:
INTRON
Gene Symbol:
B4GALNT1
Accession:
NM_001413980
Location:
INTRON
Gene Symbol:
B4GALNT1
Accession:
XM_047428682
Location:
INTRON
Gene Symbol:
B4GALNT1
Accession:
NM_001413974
Location:
INTRON
Gene Symbol:
B4GALNT1
Accession:
NM_001478
Location:
INTRON
Gene Symbol:
B4GALNT1
Accession:
NM_001413978
Location:
INTRON
Gene Symbol:
B4GALNT1
Accession:
NM_001413973
Location:
INTRON
Gene Symbol:
B4GALNT1
Accession:
XM_011538147
Location:
INTRON
Gene Symbol:
B4GALNT1
Accession:
NM_001413984
Location:
INTRON
Gene Symbol:
B4GALNT1
Accession:
NM_001413968
Location:
INTRON
Gene Symbol:
B4GALNT1
Accession:
NM_001413981
Location:
INTRON
Gene Symbol:
B4GALNT1
Accession:
NM_001413967
Location:
INTRON
Gene Symbol:
B4GALNT1
Accession:
NM_001276468
Location:
INTRON
Gene Symbol:
B4GALNT1
Accession:
NM_001413972
Location:
INTRON
Gene Symbol:
B4GALNT1
Accession:
XM_047428681
Location:
INTRON
Gene Symbol:
B4GALNT1
Accession:
NM_001413969
Location:
INTRON
Gene Symbol:
B4GALNT1
Accession:
NM_001413970
Location:
INTRON
Gene Symbol:
B4GALNT1
Accession:
NM_001413983
Location:
INTRON
Gene Symbol:
B4GALNT1
Accession:
NM_001413979
Location:
INTRON
.
Variant Samples
1 to 1 of 1 rows
10
20
30
40
100
All Rows
ClinVar GRCh37
ClinVar GRCh38
1 to 1 of 1 rows
10
20
30
40
100
All Rows
Additional Information
External Database Links
1 to 6 of 6 rows
3
5
10
20
40
100
All Rows
Database
Acc Id
Source(s)
ClinVar
RCV001541048
CLINVAR
dbSNP (RS)
rs12320537
CLINVAR
GWAS Catalog
GCST010041
GWAS Catalog
MedGen
C3661900
CLINVAR
NCBI Gene
B4GALNT1
CLINVAR
OMIM
601873
CLINVAR
1 to 6 of 6 rows
3
5
10
20
40
100
All Rows