rs74315384

Orientation

plus

Stabilized

plus

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

Make rs74315384(G;T)

Make rs74315384(T;T)

Reference

GRCh38 38.1/141

Chromosome

20

Position

59321127

Gene

EDN3

is a	snp
is	mentioned by
dbSNP	rs74315384
dbSNP (classic)	rs74315384
ClinGen	rs74315384
ebi	rs74315384
HLI	rs74315384
Exac	rs74315384
Gnomad	rs74315384
Varsome	rs74315384
LitVar	rs74315384
Map	rs74315384
PheGenI	rs74315384
Biobank	rs74315384
1000 genomes	rs74315384
hgdp	rs74315384
ensembl	rs74315384
geneview	rs74315384
scholar	rs74315384
google	rs74315384
pharmgkb	rs74315384
gwascentral	rs74315384
openSNP	rs74315384
23andMe	rs74315384
SNPshot	rs74315384
SNPdbe	rs74315384
MSV3d	rs74315384
GWAS Ctlg	rs74315384

Max Magnitude

0

OMIM	131242
Desc
Variant	0002
Related	also

ClinVar
Risk	rs74315384(T;T)
Alt	rs74315384(T;T)
Reference	Rs74315384(G;G)
Significance	Pathogenic
Disease	Waardenburg syndrome type 4B
Variation	info
Gene	EDN3
CLNDBN	Waardenburg syndrome type 4B
Reversed	0
HGVS	NC_000020.10:g.57896182G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018124.28,