rs745456566 Rat Genome Database

rs745456566 Rat Genome Database

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Variant: rs745456566 - Homo sapiens

RGD ID:

11596390

RS ID:

rs745456566

ClinVar ID:

CV281532

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

G

Variant Nucleotide:

T

Position

Assembly	Chr	Position
GRCh37	1	236,646,695
GRCh38	1	236,483,395

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NG_011566.1:g.94016G>T NC_000001.11:g.236483395G>T NC_000001.10:g.236646695G>T NG_001115.8:g.398G>T More...	01/13/2018	3 prime utr variant	uncertain significance

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV281532	Human	ectodermal dysplasia		IAGP		8554872	ClinVar Annotator: match by term: Hypohidrotic Ectodermal Dysplasia, Recessive	ClinVar
CV281532	Human	hypohidrotic ectodermal dysplasia		IAGP		8554872	ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia	ClinVar

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV281532	Human	Hypohidrotic ectodermal dysplasia		IAGP		8554872	ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia	ClinVar

Gene Symbol:	EDARADD
Accession:	NM_145861
Location:	3UTRS;EXON

Gene Symbol:	EDARADD
Accession:	NM_080738
Location:	3UTRS;EXON

Gene Symbol:	EDARADD
Accession:	NM_001422628
Location:	3UTRS;EXON

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV000381618	CLINVAR
	RCV001098737	CLINVAR
dbSNP (RS)	rs745456566	CLINVAR
MedGen	C5848103	CLINVAR
	CN239465	CLINVAR
NCBI Gene	EDARADD	CLINVAR
OMIM	606603	CLINVAR
	614941	CLINVAR