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rs74315385

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs74315385(A;A)
Make rs74315385(A;C)
ReferenceGRCh38 38.1/141
Chromosome20
Position59321158
GeneEDN3
is asnp
is mentioned by
dbSNPrs74315385
ebirs74315385
HLIrs74315385
Exacrs74315385
Varsomers74315385
Maprs74315385
PheGenIrs74315385
hapmaprs74315385
1000 genomesrs74315385
hgdprs74315385
ensemblrs74315385
gopubmedrs74315385
geneviewrs74315385
scholarrs74315385
googlers74315385
pharmgkbrs74315385
gwascentralrs74315385
openSNPrs74315385
23andMers74315385
23andMe allrs74315385
SNP Nexus

SNPshotrs74315385
SNPdbers74315385
MSV3drs74315385
GWAS Ctlgrs74315385
GMAF0.0004591
Max Magnitude0
OMIM131242
Desc
Variant0007
Relatedalso
ClinVar
Risk rs74315385(A,T;A,T)
Alt rs74315385(A,T;A,T)
Reference rs74315385(C;C)
Significance Pathogenic
Disease Waardenburg syndrome type 4B
Variation info
Gene EDN3
CLNDBN Waardenburg syndrome type 4B
Reversed 0
HGVS NC_000020.10:g.57896213C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018129.23,