rs587777233

Orientation

plus

Stabilized

plus

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

Make rs587777233(A;A)

Make rs587777233(A;T)

Reference

GRCh38 38.1/142

Chromosome

6

Position

12292467

Gene

EDN1

is a	snp
is	mentioned by
dbSNP	rs587777233
dbSNP (classic)	rs587777233
ClinGen	rs587777233
ebi	rs587777233
HLI	rs587777233
Exac	rs587777233
Gnomad	rs587777233
Varsome	rs587777233
LitVar	rs587777233
Map	rs587777233
PheGenI	rs587777233
Biobank	rs587777233
1000 genomes	rs587777233
hgdp	rs587777233
ensembl	rs587777233
geneview	rs587777233
scholar	rs587777233
google	rs587777233
pharmgkb	rs587777233
gwascentral	rs587777233
openSNP	rs587777233
23andMe	rs587777233
SNPshot	rs587777233
SNPdbe	rs587777233
MSV3d	rs587777233
GWAS Ctlg	rs587777233

Max Magnitude

0

ClinVar
Risk	rs587777233(A;A)
Alt	rs587777233(A;A)
Reference	Rs587777233(T;T)
Significance	Pathogenic
Disease	Question mark ears
Variation	info
Gene	EDN1
CLNDBN	Question mark ears, isolated
Reversed	0
HGVS	NC_000006.11:g.12292700T>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000106314.3,