rs5352

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	3.5	Hirschsprung disease?
(A;G)	2.2	probably Hirschsprung disease carrier
(G;G)	0	common

Reference

GRCh38 38.1/142

Chromosome

13

Position

77901095

Gene	EDNRB, EDNRB-AS1

is a	snp
is	mentioned by
dbSNP	rs5352
dbSNP (classic)	rs5352
ClinGen	rs5352
ebi	rs5352
HLI	rs5352
Exac	rs5352
Gnomad	rs5352
Varsome	rs5352
LitVar	rs5352
Map	rs5352
PheGenI	rs5352
Biobank	rs5352
1000 genomes	rs5352
hgdp	rs5352
ensembl	rs5352
geneview	rs5352
scholar	rs5352
google	rs5352
pharmgkb	rs5352
gwascentral	rs5352
openSNP	rs5352
23andMe	rs5352
SNPshot	rs5352
SNPdbe	rs5352
MSV3d	rs5352
GWAS Ctlg	rs5352

GMAF

0.006887

Max Magnitude

3.5

?	(A;A) (A;G) (G;G)	28

OMIM	131244
Desc	HIRSCHSPRUNG DISEASE 2
Variant	0006
Related	also

ClinVar
Risk	Rs5352(A;A)
Alt	Rs5352(A;A)
Reference	Rs5352(G;G)
Significance	Other
Disease	Hirschsprung disease 2 not specified Hirschsprung Disease
Variation	info
Gene	EDNRB EDNRB-AS1
CLNDBN	Hirschsprung disease 2 not specified Hirschsprung Disease, Recessive
Reversed	1
HGVS	NC_000013.10:g.78475230C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018118.4, RCV000222856.2, RCV000356259.1,