Rs11570351

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Orientationplus
is asnp
is mentioned by
dbSNPrs11570351
PheGenIrs11570351
nextbiors11570351
hapmaprs11570351
1000 genomesrs11570351
hgdprs11570351
ensemblrs11570351
gopubmedrs11570351
geneviewrs11570351
scholarrs11570351
googlers11570351
pharmgkbrs11570351
gwascentralrs11570351
openSNPrs11570351
23andMers11570351
23andMe allrs11570351
SNP Nexus

SNPshotrs11570351
SNPdbers11570351
MSV3drs11570351
GeneEDN3
Chromosome20
Orientationplus
GMAF0.002296
Position59324412
ReferenceGRCh38 38.1/141
Max Magnitude0
Geno Mag Summary
(G;G) 0 common on affy axiom data
Make rs11570351(A;A)
Make rs11570351(A;G)
? (A;A) (A;G) (G;G) 28
OMIM131242
DescHIRSCHSPRUNG DISEASE
Variant0005
Relatedalso


ClinVar
Risk rs11570351(A;A)
Alt rs11570351(A;A)
Reference rs11570351(G;G)
Significance 255
Disease Hirschsprung disease 4
ClinVar info
Gene EDN3
CLNDBN Hirschsprung disease 4
Reversed 0
CLNHGVS NC_000020.10:g.57899467G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018127.1



GET Evidence
EDN3-A224T
aa_change Ala224Thr
aa_change_short A224T
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.00176613
summary Found heterozygously in one patient with Hirschsprung disease, potentially causes increased susceptibility. The gene is associated with this disease but evidence is weak.