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rs587777231

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587777231(A;G)
Make rs587777231(G;G)
ReferenceGRCh38 38.1/142
Chromosome6
Position12293978
GeneEDN1
is asnp
is mentioned by
dbSNPrs587777231
ebirs587777231
HLIrs587777231
Exacrs587777231
Varsomers587777231
Maprs587777231
PheGenIrs587777231
hapmaprs587777231
1000 genomesrs587777231
hgdprs587777231
ensemblrs587777231
gopubmedrs587777231
geneviewrs587777231
scholarrs587777231
googlers587777231
pharmgkbrs587777231
gwascentralrs587777231
openSNPrs587777231
23andMers587777231
23andMe allrs587777231
SNP Nexus

SNPshotrs587777231
SNPdbers587777231
MSV3drs587777231
GWAS Ctlgrs587777231
Max Magnitude0
ClinVar
Risk rs587777231(G;G)
Alt rs587777231(G;G)
Reference rs587777231(A;A)
Significance Pathogenic
Disease Auriculocondylar syndrome 3
Variation info
Gene EDN1
CLNDBN Auriculocondylar syndrome 3
Reversed 0
HGVS NC_000006.11:g.12294211A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000106312.3,