rs745795470

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs745795470(A;A)

Make rs745795470(A;C)

Reference

GRCh38.p7 38.3/149

Chromosome

20

Position

59301650

Gene

EDN3

is a	snp
is	mentioned by
dbSNP	rs745795470
dbSNP (classic)	rs745795470
ClinGen	rs745795470
ebi	rs745795470
HLI	rs745795470
Exac	rs745795470
Gnomad	rs745795470
Varsome	rs745795470
LitVar	rs745795470
Map	rs745795470
PheGenI	rs745795470
Biobank	rs745795470
1000 genomes	rs745795470
hgdp	rs745795470
ensembl	rs745795470
geneview	rs745795470
scholar	rs745795470
google	rs745795470
pharmgkb	rs745795470
gwascentral	rs745795470
openSNP	rs745795470
23andMe	rs745795470
SNPshot	rs745795470
SNPdbe	rs745795470
MSV3d	rs745795470
GWAS Ctlg	rs745795470

Max Magnitude

0

ClinVar
Risk	rs745795470(A;A)
Alt	rs745795470(A;A)
Reference	Rs745795470(C;C)
Significance	Probable-Pathogenic
Disease	Waardenburg syndrome Hirschsprung Disease
Variation	info
Gene	EDN3
CLNDBN	Waardenburg syndrome Hirschsprung Disease, Dominant
Reversed	0
HGVS	NC_000020.10:g.57876705C>A
CLNSRC	Illumina
CLNACC	RCV000284549.1, RCV000383770.1,