rs1801710

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common on affy axiom data

Make rs1801710(A;A)

Make rs1801710(A;G)

Reference

GRCh38 38.1/141

Chromosome

13

Position

77918405

Gene

EDNRB

is a	snp
is	mentioned by
dbSNP	rs1801710
dbSNP (classic)	rs1801710
ClinGen	rs1801710
ebi	rs1801710
HLI	rs1801710
Exac	rs1801710
Gnomad	rs1801710
Varsome	rs1801710
LitVar	rs1801710
Map	rs1801710
PheGenI	rs1801710
Biobank	rs1801710
1000 genomes	rs1801710
hgdp	rs1801710
ensembl	rs1801710
geneview	rs1801710
scholar	rs1801710
google	rs1801710
pharmgkb	rs1801710
gwascentral	rs1801710
openSNP	rs1801710
23andMe	rs1801710
SNPshot	rs1801710
SNPdbe	rs1801710
MSV3d	rs1801710
GWAS Ctlg	rs1801710

GMAF

0.004591

Max Magnitude

0

OMIM	131244
Desc
Variant	0005
Related	also

ClinVar
Risk	rs1801710(A;A)
Alt	rs1801710(A;A)
Reference	Rs1801710(G;G)
Significance	Other
Disease	Hirschsprung disease 2 not specified not provided Waardenburg syndrome Hirschsprung Disease
Variation	info
Gene	EDNRB
CLNDBN	Hirschsprung disease 2 not specified not provided Waardenburg syndrome Hirschsprung Disease, Recessive
Reversed	1
HGVS	NC_000013.10:g.78492540C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018117.3, RCV000216329.2, RCV000224294.1, RCV000293473.1, RCV000350820.1,