rs1900111689 Rat Genome Database
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Summary
Annotation
ClinVar Data
Imported Disease - ClinVar
Variant Details
Variant Transcripts
Variant Samples
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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
Annotation
Click to see Annotation Summary View
ClinVar Data
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
LRG_224:g.89703G>T
NM_000021.4:c.*1884G>T
NM_007318.3:c.*1884G>T
LRG_224t1:c.*1884G>T
More...
01/13/2018
3 prime utr variant
uncertain significance
Alzheimer disease early onset type 3; ALZHEIMER DISEASE, FAMILIAL, 3
Imported Disease Annotations - ClinVar
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Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV872441
Human
Alzheimer's disease 3
IAGP
8554872
ClinVar Annotator: match by term: Alzheimer disease and type 3
ClinVar
CV872441
Human
dilated cardiomyopathy 1U
IAGP
8554872
ClinVar Annotator: match by term: Cardiomyopathy
more ...
ClinVar
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Disease Annotations
Click to see Annotation Summary View
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Alzheimer's disease 3
(IAGP)
dilated cardiomyopathy 1U
(IAGP)
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Variant Details
Variant Transcripts
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
.
Variant Samples
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ClinVar GRCh37
ClinVar GRCh38
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Additional Information
External Database Links
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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
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