Have questions? Visit https://www.reddit.com/r/SNPedia

rs74315384

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs74315384(G;T)
Make rs74315384(T;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position59321127
GeneEDN3
is asnp
is mentioned by
dbSNPrs74315384
ebirs74315384
HLIrs74315384
Exacrs74315384
Varsomers74315384
Maprs74315384
PheGenIrs74315384
hapmaprs74315384
1000 genomesrs74315384
hgdprs74315384
ensemblrs74315384
gopubmedrs74315384
geneviewrs74315384
scholarrs74315384
googlers74315384
pharmgkbrs74315384
gwascentralrs74315384
openSNPrs74315384
23andMers74315384
23andMe allrs74315384
SNP Nexus

SNPshotrs74315384
SNPdbers74315384
MSV3drs74315384
GWAS Ctlgrs74315384
Max Magnitude0
OMIM131242
Desc
Variant0002
Relatedalso
ClinVar
Risk rs74315384(T;T)
Alt rs74315384(T;T)
Reference rs74315384(G;G)
Significance Pathogenic
Disease Waardenburg syndrome type 4B
Variation info
Gene EDN3
CLNDBN Waardenburg syndrome type 4B
Reversed 0
HGVS NC_000020.10:g.57896182G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018124.27,