rs74315385

Orientation

plus

Stabilized

plus

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

Make rs74315385(A;A)

Make rs74315385(A;C)

Reference

GRCh38 38.1/141

Chromosome

20

Position

59321158

Gene

EDN3

is a	snp
is	mentioned by
dbSNP	rs74315385
dbSNP (classic)	rs74315385
ClinGen	rs74315385
ebi	rs74315385
HLI	rs74315385
Exac	rs74315385
Gnomad	rs74315385
Varsome	rs74315385
LitVar	rs74315385
Map	rs74315385
PheGenI	rs74315385
Biobank	rs74315385
1000 genomes	rs74315385
hgdp	rs74315385
ensembl	rs74315385
geneview	rs74315385
scholar	rs74315385
google	rs74315385
pharmgkb	rs74315385
gwascentral	rs74315385
openSNP	rs74315385
23andMe	rs74315385
SNPshot	rs74315385
SNPdbe	rs74315385
MSV3d	rs74315385
GWAS Ctlg	rs74315385

GMAF

0.0004591

Max Magnitude

0

OMIM	131242
Desc
Variant	0007
Related	also

ClinVar
Risk	rs74315385(A;A) rs74315385(T;T)
Alt	rs74315385(A;A) rs74315385(T;T)
Reference	Rs74315385(C;C)
Significance	Pathogenic
Disease	Waardenburg syndrome type 4B
Variation	info
Gene	EDN3
CLNDBN	Waardenburg syndrome type 4B
Reversed	0
HGVS	NC_000020.10:g.57896213C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018129.24,