rs104894387

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in complete genomics

Make rs104894387(G;T)

Make rs104894387(T;T)

Reference

GRCh38 38.1/142

Chromosome

13

Position

77901181

Gene	EDNRB, EDNRB-AS1

is a	snp
is	mentioned by
dbSNP	rs104894387
dbSNP (classic)	rs104894387
ClinGen	rs104894387
ebi	rs104894387
HLI	rs104894387
Exac	rs104894387
Gnomad	rs104894387
Varsome	rs104894387
LitVar	rs104894387
Map	rs104894387
PheGenI	rs104894387
Biobank	rs104894387
1000 genomes	rs104894387
hgdp	rs104894387
ensembl	rs104894387
geneview	rs104894387
scholar	rs104894387
google	rs104894387
pharmgkb	rs104894387
gwascentral	rs104894387
openSNP	rs104894387
23andMe	rs104894387
SNPshot	rs104894387
SNPdbe	rs104894387
MSV3d	rs104894387
GWAS Ctlg	rs104894387

Max Magnitude

0

OMIM	131244
Desc
Variant	0001
Related	also

ClinVar
Risk	rs104894387(T;T)
Alt	rs104894387(T;T)
Reference	Rs104894387(G;G)
Significance	Other
Disease	Hirschsprung disease 2 Waardenburg syndrome type 4A
Variation	info
Gene	EDNRB EDNRB-AS1
CLNDBN	Hirschsprung disease 2 Waardenburg syndrome type 4A
Reversed	1
HGVS	NC_000013.10:g.78475316C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018112.2, RCV000018113.27,