rs587777232

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;C)	3	Carrier for an auriculocondylar syndrome-3 mutation
(C;C)	0	common in clinvar

Make rs587777232(A;A)

Reference

GRCh38 38.1/142

Chromosome

6

Position

12292506

Gene

EDN1

is a	snp
is	mentioned by
dbSNP	rs587777232
dbSNP (classic)	rs587777232
ClinGen	rs587777232
ebi	rs587777232
HLI	rs587777232
Exac	rs587777232
Gnomad	rs587777232
Varsome	rs587777232
LitVar	rs587777232
Map	rs587777232
PheGenI	rs587777232
Biobank	rs587777232
1000 genomes	rs587777232
hgdp	rs587777232
ensembl	rs587777232
geneview	rs587777232
scholar	rs587777232
google	rs587777232
pharmgkb	rs587777232
gwascentral	rs587777232
openSNP	rs587777232
23andMe	rs587777232
SNPshot	rs587777232
SNPdbe	rs587777232
MSV3d	rs587777232
GWAS Ctlg	rs587777232

Max Magnitude

3

see OMIM 131240.0003

ClinVar
Risk	rs587777232(A;A)
Alt	rs587777232(A;A)
Reference	Rs587777232(C;C)
Significance	Pathogenic
Disease	Auriculocondylar syndrome 3
Variation	info
Gene	EDN1
CLNDBN	Auriculocondylar syndrome 3
Reversed	0
HGVS	NC_000006.11:g.12292739C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000106313.3,