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rs34604265

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs34604265(G;T)
Make rs34604265(T;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position59321024
GeneEDN3
is asnp
is mentioned by
dbSNPrs34604265
ebirs34604265
HLIrs34604265
Exacrs34604265
Varsomers34604265
Maprs34604265
PheGenIrs34604265
hapmaprs34604265
1000 genomesrs34604265
hgdprs34604265
ensemblrs34604265
gopubmedrs34604265
geneviewrs34604265
scholarrs34604265
googlers34604265
pharmgkbrs34604265
gwascentralrs34604265
openSNPrs34604265
23andMers34604265
23andMe allrs34604265
SNP Nexus

SNPshotrs34604265
SNPdbers34604265
MSV3drs34604265
GWAS Ctlgrs34604265
Max Magnitude0
Venter snp
Source plos
Gene EDN3
allele T
frequency
sift AFFECT FUNCTION
HuRef 1103643233419
Disease Association Defects in EDN3 are a cause of Waardenburg syndrome type IV (WS4) (MIM:277580); also known as Waardenburg-Shah syndrome. WS4 is characterized by the association of Waardenburg features (depigmentation and deafness) and the absence of enteric ganglia in the distal part of the intestine (Hirschsprung disease).