rs104894390

Orientation

minus

Stabilized

minus

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

Make rs104894390(C;T)

Make rs104894390(T;T)

Reference

GRCh38 38.1/141

Chromosome

13

Position

77903200

Gene	EDNRB, EDNRB-AS1

is a	snp
is	mentioned by
dbSNP	rs104894390
dbSNP (classic)	rs104894390
ClinGen	rs104894390
ebi	rs104894390
HLI	rs104894390
Exac	rs104894390
Gnomad	rs104894390
Varsome	rs104894390
LitVar	rs104894390
Map	rs104894390
PheGenI	rs104894390
Biobank	rs104894390
1000 genomes	rs104894390
hgdp	rs104894390
ensembl	rs104894390
geneview	rs104894390
scholar	rs104894390
google	rs104894390
pharmgkb	rs104894390
gwascentral	rs104894390
openSNP	rs104894390
23andMe	rs104894390
SNPshot	rs104894390
SNPdbe	rs104894390
MSV3d	rs104894390
GWAS Ctlg	rs104894390

Max Magnitude

0

OMIM	131244
Desc
Variant	0007
Related	also

ClinVar
Risk	rs104894390(A;A) rs104894390(T;T)
Alt	rs104894390(A;A) rs104894390(T;T)
Reference	Rs104894390(C;C)
Significance	Pathogenic
Disease	Waardenburg syndrome type 4A
Variation	info
Gene	EDNRB EDNRB-AS1
CLNDBN	Waardenburg syndrome type 4A
Reversed	1
HGVS	NC_000013.10:g.78477335G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018119.29,