rs1900111689 Rat Genome Database

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Variant: rs1900111689 -  Homo sapiens

RGD ID: 28875102
RS ID: rs1900111689
ClinVar ID: CV872441
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PSEN1  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 14 73,687,881
GRCh38 14 73,221,173
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NG_007386.2:g.89703G>T
NC_000014.9:g.73221173G>T
NC_000014.8:g.73687881G>T
NM_000021.3:c.*1884G>T
More...
01/13/2018 3 prime utr variant uncertain significance Alzheimer disease early onset type 3; ALZHEIMER DISEASE, FAMILIAL, 3
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV872441HumanAlzheimer's disease 3  IAGP 8554872ClinVar Annotator: match by term: Alzheimer disease and type 3ClinVar 
CV872441Humandilated cardiomyopathy 1U  IAGP 8554872ClinVar Annotator: match by term: Cardiomyopathy more ...ClinVar 


Gene Symbol:PSEN1
Accession:XM_011536974
Location:3UTRS;EXON

Gene Symbol:PSEN1
Accession:XM_047431601
Location:3UTRS;EXON

Gene Symbol:PSEN1
Accession:XM_005267864
Location:3UTRS;EXON

Gene Symbol:PSEN1
Accession:XM_047431602
Location:3UTRS;EXON

Gene Symbol:PSEN1
Accession:XM_011536973
Location:3UTRS;EXON

Gene Symbol:PSEN1
Accession:NM_007318
Location:3UTRS;EXON

Gene Symbol:PSEN1
Accession:XM_011536972
Location:3UTRS;EXON

Gene Symbol:PSEN1
Accession:NM_000021
Location:3UTRS;EXON

Gene Symbol:PSEN1
Accession:XM_005267866
Location:3UTRS;EXON

Gene Symbol:PSEN1
Accession:XM_047431600
Location:3UTRS;EXON

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1 to 9 of 9 rows
Database
Acc Id
Source(s)
ClinVar RCV001115741 CLINVAR
  RCV001115742 CLINVAR
dbSNP (RS) rs1900111689 CLINVAR
MedGen C1843013 CLINVAR
  C3160720 CLINVAR
NCBI Gene PSEN1 CLINVAR
OMIM 104311 CLINVAR
  607822 CLINVAR
  613694 CLINVAR
1 to 9 of 9 rows