RGD:11096119 Rat Genome Database

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Variant: RGD:11096119 -  Homo sapiens

RGD ID: 11096119
RS ID: rs876660544
ClinVar ID: CV232478
Genic Status: INTERGENIC
Type: SNV (SO:0001483) 
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 47,630,072
GRCh38 2 47,402,933
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
LRG_218:g.4810T>C
NG_007110.2:g.4810T>C
NC_000002.12:g.47402933T>C
NC_000002.11:g.47630072T>C
More... 		01/31/2018 2kb upstream variant|intron variant uncertain significance adult Cancer predisposition; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Neoplastic Syndromes, Hereditary; Tumor predisposition
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000223171 CLINVAR
dbSNP (RS) rs876660544 CLINVAR
MedGen C0027672 CLINVAR
NCBI Gene MSH2 CLINVAR
OMIM 609309 CLINVAR
SNOMED CT 699346009 CLINVAR