rs149429886 Rat Genome Database

rs149429886 Rat Genome Database

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Variant: rs149429886 - Homo sapiens

RGD ID:

28892118

RS ID:

rs149429886

ClinVar ID:

CV865147

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

G

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	1	236,572,581
GRCh38	1	236,409,281

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NC_000001.11:g.236409281G>A NG_011566.1:g.19902G>A NM_145861.2:c.120+7G>A NM_145861.4:c.120+7G>A More...	01/13/2018	intron variant	benign	Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV865147	Human	ectodermal dysplasia 11A		IAGP		8554872	ClinVar Annotator: match by term: Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant	ClinVar	PMID:28492532
CV865147	Human	hypohidrotic ectodermal dysplasia		IAGP		8554872	ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia	ClinVar	PMID:28492532

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV865147	Human	Hypohidrotic ectodermal dysplasia		IAGP		8554872	ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia	ClinVar	PMID:28492532

Gene Symbol:	EDARADD
Accession:	NM_145861
Location:	INTRON

Gene Symbol:	EDARADD
Accession:	NM_080738
Location:	INTRON

Gene Symbol:	EDARADD
Accession:	NM_001422628
Location:	INTRON

ClinVar GRCh37	ClinVar GRCh38

PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV001100442	CLINVAR
	RCV003117751	CLINVAR
dbSNP (RS)	rs149429886	CLINVAR
MedGen	C3541517	CLINVAR
	C5848103	CLINVAR
NCBI Gene	EDARADD	CLINVAR
OMIM	606603	CLINVAR
	614940	CLINVAR
	614941	CLINVAR