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rs11570351

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common on affy axiom data
Make rs11570351(A;A)
Make rs11570351(A;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position59324412
GeneEDN3
is asnp
is mentioned by
dbSNPrs11570351
dbSNP (classic)rs11570351
ClinGenrs11570351
ebirs11570351
HLIrs11570351
Exacrs11570351
Gnomadrs11570351
Varsomers11570351
LitVarrs11570351
Maprs11570351
PheGenIrs11570351
Biobankrs11570351
1000 genomesrs11570351
hgdprs11570351
ensemblrs11570351
geneviewrs11570351
scholarrs11570351
googlers11570351
pharmgkbrs11570351
gwascentralrs11570351
openSNPrs11570351
23andMers11570351
SNPshotrs11570351
SNPdbers11570351
MSV3drs11570351
GWAS Ctlgrs11570351
GMAF0.002296
Max Magnitude0
? (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 Other
Disease Hirschsprung disease 4 not specified
Variation info
Gene EDN3
CLNDBN Hirschsprung disease 4 not specified
Reversed 0
HGVS NC_000020.10:g.57899467G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000018127.3, RCV000214032.2,