rs104894391

Orientation

minus

Stabilized

minus

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

Make rs104894391(C;T)

Make rs104894391(T;T)

Reference

GRCh38 38.1/141

Chromosome

13

Position

77903356

Gene	EDNRB, EDNRB-AS1

is a	snp
is	mentioned by
dbSNP	rs104894391
dbSNP (classic)	rs104894391
ClinGen	rs104894391
ebi	rs104894391
HLI	rs104894391
Exac	rs104894391
Gnomad	rs104894391
Varsome	rs104894391
LitVar	rs104894391
Map	rs104894391
PheGenI	rs104894391
Biobank	rs104894391
1000 genomes	rs104894391
hgdp	rs104894391
ensembl	rs104894391
geneview	rs104894391
scholar	rs104894391
google	rs104894391
pharmgkb	rs104894391
gwascentral	rs104894391
openSNP	rs104894391
23andMe	rs104894391
SNPshot	rs104894391
SNPdbe	rs104894391
MSV3d	rs104894391
GWAS Ctlg	rs104894391

Max Magnitude

0

OMIM	131244
Desc
Variant	0008
Related	also

ClinVar
Risk	rs104894391(T;T)
Alt	rs104894391(T;T)
Reference	Rs104894391(C;C)
Significance	Pathogenic
Disease	ABCD syndrome
Variation	info
Gene	EDNRB EDNRB-AS1
CLNDBN	ABCD syndrome
Reversed	1
HGVS	NC_000013.10:g.78477491G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018120.28,