rs104894389

Orientation

minus

Stabilized

minus

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

Make rs104894389(A;A)

Make rs104894389(A;G)

Reference

GRCh38 38.1/141

Chromosome

13

Position

77901185

Gene	EDNRB, EDNRB-AS1

is a	snp
is	mentioned by
dbSNP	rs104894389
dbSNP (classic)	rs104894389
ClinGen	rs104894389
ebi	rs104894389
HLI	rs104894389
Exac	rs104894389
Gnomad	rs104894389
Varsome	rs104894389
LitVar	rs104894389
Map	rs104894389
PheGenI	rs104894389
Biobank	rs104894389
1000 genomes	rs104894389
hgdp	rs104894389
ensembl	rs104894389
geneview	rs104894389
scholar	rs104894389
google	rs104894389
pharmgkb	rs104894389
gwascentral	rs104894389
openSNP	rs104894389
23andMe	rs104894389
SNPshot	rs104894389
SNPdbe	rs104894389
MSV3d	rs104894389
GWAS Ctlg	rs104894389

Max Magnitude

0

OMIM	131244
Desc
Variant	0003
Related	also

ClinVar
Risk	rs104894389(A;A) rs104894389(C;C)
Alt	rs104894389(A;A) rs104894389(C;C)
Reference	Rs104894389(G;G)
Significance	Other
Disease	Hirschsprung disease 2
Variation	info
Gene	EDNRB EDNRB-AS1
CLNDBN	Hirschsprung disease 2
Reversed	1
HGVS	NC_000013.10:g.78475320C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018115.3,