rs587776842

plus

Geno	Mag	Summary
(-;-)	3	Autonomic nervous system dysfunction?
(-;GCCGACCTCCTCC)	3	Carrier of DRD4 deletion allele
(CCGCCGACCTCCT;CCGCCGACCTCCT)	0	common in clinvar
(GCCGACCTCCTCC;GCCGACCTCCTCC)	0	common in clinvar

Reference

GRCh38 38.1/142

Chromosome

11

Position

637539

Gene

DRD4

is a	snp
is	mentioned by
dbSNP	rs587776842
dbSNP (classic)	rs587776842
ClinGen	rs587776842
ebi	rs587776842
HLI	rs587776842
Exac	rs587776842
Gnomad	rs587776842
Varsome	rs587776842
LitVar	rs587776842
Map	rs587776842
PheGenI	rs587776842
Biobank	rs587776842
1000 genomes	rs587776842
hgdp	rs587776842
ensembl	rs587776842
geneview	rs587776842
scholar	rs587776842
google	rs587776842
pharmgkb	rs587776842
gwascentral	rs587776842
openSNP	rs587776842
23andMe	rs587776842
SNPshot	rs587776842
SNPdbe	rs587776842
MSV3d	rs587776842
GWAS Ctlg	rs587776842

Merged from

Rs554375713

Max Magnitude

3

rs587776842, also known as c.235_247delGCCGACCTCCTCC, represents a rare deletion variant in the DRD4 gene on chromosome 11, encoding a nonfunctional DRD4 protein. The DRD4 protein is a G protein-coupled receptor belonging to the dopamine D2-like receptor family.

A patient carrying two copies of the minor allele of rs587776842 was reported to have an autonomic nervous system dysfunction; see OMIM. Heterozygous individuals are not reported to be symptomatic.

ClinVar
Risk	Rs587776842(-;-) Rs587776842(CCGCCGACCTCCT;CCGCCGACCTCCT)
Alt	Rs587776842(-;-) Rs587776842(CCGCCGACCTCCT;CCGCCGACCTCCT)
Reference	Rs587776842(GCCGACCTCCTCC;GCCGACCTCCTCC)
Significance	Pathogenic
Disease	Autonomic nervous system dysfunction
Variation	info
Gene	DRD4
CLNDBN	Autonomic nervous system dysfunction
Reversed	0
HGVS	NC_000011.9:g.637539_637551delGCCGACCTCCTCC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018254.23,