rs2071754 Rat Genome Database

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Variant: rs2071754 -  Homo sapiens

RGD ID: 14725157
RS ID: rs2071754
ClinVar ID: CV665691
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PAX6  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 31,812,582
GRCh38 11 31,791,034
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008679.1:g.31928G>A
NC_000011.10:g.31791034C>T
NC_000011.9:g.31812582C>T
NM_000280.3:c.1033-174G>A
More... 		06/19/2018 intron variant benign none provided
Experimental Factor Annotations    Click to see Annotation Detail View
Object SymbolSpeciesTermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
CV665691Humandepressive symptom measurement  IAGP 405850206 GWAS_CATALOGPMID:30643256
CV665691Humanneuroticism measurement  IAGP 405850206 GWAS_CATALOGPMID:30643256
GWAS QTLs Related by Peak Marker
Data has come from the GWAS Catalog   
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
GWAS592922_H GCST010017 Neuroticism 274,107 British ancestry individuals C 0.201 4E-11 10.398 rs2071754 0.01262 neurotic disorder (EFO:0004257)
 PMID:32231276
GWAS636436_H GCST007340 Depressive symptoms 1,067,913 European ancestry individuals T 0.805485004845094 3E-13 12.523 rs2071754 0.008886588 depressive symptom measurement (EFO:0007006)
 PMID:30643256
None Available GCST007339 Neuroticism 523,783 European ancestry individuals T 0.805485004845094 3E-13 12.523 rs2071754 0.0140185775 neuroticism measurement (EFO:0007660)
 PMID:30643256
GWAS667479_H GCST007709 General factor of neuroticism 270,059 British ancestry individuals C NR 1E-10 10 rs2071754 0.011488 neuroticism measurement (EFO:0007660)
 PMID:30867560
GWAS700330_H GCST90270074 Personality traits or cognitive traits (multivariate analysis) 337,125 British ancestry individuals ? NR 3E-12 11.523 rs2071754 N/A neuroticism measurement (EFO:0007660)
cognitive function measurement (EFO:0008354)
 PMID:37365406
GWAS771348_H GCST007084 Neuroticism approximately 372,000 European ancestry individuals ? NR 9E-13 12.046 rs2071754 N/A neuroticism measurement (EFO:0007660)
 PMID:30595370

Variant Details
Variant Transcripts
Gene Symbol:PAX6
Accession:NM_001258462
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368888
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368914
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368917
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368904
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001127612
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001310161
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368926
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368927
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368891
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001258463
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368919
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368915
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001310160
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368894
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368909
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001258464
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001310159
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368916
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368929
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368890
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368918
Location:INTRON

Gene Symbol:PAX6
Accession:NM_000280
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368922
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368889
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368930
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001310158
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368903
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001604
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368923
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368913
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368907
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001258465
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368910
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368908
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368900
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368893
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368928
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368911
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368901
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368925
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368899
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368905
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368920
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368906
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368921
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368892
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368924
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368902
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368887
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368912
Location:INTRON

Gene Symbol:PAX6
Accession:NR_160917
Location:INTRON;NON-CODING

Gene Symbol:PAX6
Accession:NR_160916
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000833309 CLINVAR
dbSNP (RS) rs2071754 CLINVAR
GWAS Catalog GCST007339 GWAS Catalog
  GCST007340 GWAS Catalog
MedGen C3661900 CLINVAR
NCBI Gene PAX6 CLINVAR
OMIM 607108 CLINVAR