rs104894388

Orientation

minus

Stabilized

minus

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

Make rs104894388(C;G)

Make rs104894388(G;G)

Reference

GRCh38 38.1/141

Chromosome

13

Position

77903543

Gene	EDNRB, EDNRB-AS1

is a	snp
is	mentioned by
dbSNP	rs104894388
dbSNP (classic)	rs104894388
ClinGen	rs104894388
ebi	rs104894388
HLI	rs104894388
Exac	rs104894388
Gnomad	rs104894388
Varsome	rs104894388
LitVar	rs104894388
Map	rs104894388
PheGenI	rs104894388
Biobank	rs104894388
1000 genomes	rs104894388
hgdp	rs104894388
ensembl	rs104894388
geneview	rs104894388
scholar	rs104894388
google	rs104894388
pharmgkb	rs104894388
gwascentral	rs104894388
openSNP	rs104894388
23andMe	rs104894388
SNPshot	rs104894388
SNPdbe	rs104894388
MSV3d	rs104894388
GWAS Ctlg	rs104894388

Max Magnitude

0

OMIM	131244
Desc
Variant	0002
Related	also

ClinVar
Risk	rs104894388(G;G)
Alt	rs104894388(G;G)
Reference	Rs104894388(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.78477678G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018114.27,