rs1256328 Rat Genome Database

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Variant: rs1256328 -  Homo sapiens

RGD ID: 11550311
RS ID: rs1256328
ClinVar ID: CV249717
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ALPL  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 21,896,767
GRCh38 1 21,570,274
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008940.1:g.65910C>T
NC_000001.11:g.21570274C>T
NC_000001.10:g.21896767C>T
NM_000478.4:c.793-31C>T
More... 		07/01/2021 intron variant benign AllHighlyPenetrant; none provided
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
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
GWAS605492_H GCST003086 Kidney stones 5,149 European ancestry cases, 279,870 European ancestry controls (includes non-array genotyped, whole-genome imputed individuals) T 0.1779 6E-10 9.222 rs1256328 1.21 nephrolithiasis (EFO:0004253)
 PMID:26272126

Variant Details
Variant Transcripts
Gene Symbol:ALPL
Accession:NM_000478
Location:INTRON

Gene Symbol:ALPL
Accession:NM_001127501
Location:INTRON

Gene Symbol:ALPL
Accession:NM_001177520
Location:INTRON

Gene Symbol:ALPL
Accession:XM_017000903
Location:INTRON

Gene Symbol:ALPL
Accession:NM_001369805
Location:INTRON

Gene Symbol:ALPL
Accession:NM_001369804
Location:INTRON

Gene Symbol:ALPL
Accession:NM_001369803
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000251589 CLINVAR
  RCV001533557 CLINVAR
  RCV001533558 CLINVAR
  RCV001533559 CLINVAR
  RCV001610575 CLINVAR
dbSNP (RS) rs1256328 CLINVAR
GWAS Catalog GCST003086 GWAS Catalog
MedGen C0220743 CLINVAR
  C0268412 CLINVAR
  C0268413 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene ALPL CLINVAR
OMIM 146300 CLINVAR
  171760 CLINVAR
  241500 CLINVAR
  241510 CLINVAR
SNOMED CT 20756002 CLINVAR
  30174008 CLINVAR
  55236002 CLINVAR