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rs4774518

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs4774518(C;G)
Make rs4774518(G;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position45117274
GeneDUOXA1, DUOXA2
is asnp
is mentioned by
dbSNPrs4774518
ebirs4774518
HLIrs4774518
Exacrs4774518
Varsomers4774518
Maprs4774518
PheGenIrs4774518
hapmaprs4774518
1000 genomesrs4774518
hgdprs4774518
ensemblrs4774518
gopubmedrs4774518
geneviewrs4774518
scholarrs4774518
googlers4774518
pharmgkbrs4774518
gwascentralrs4774518
openSNPrs4774518
23andMers4774518
23andMe allrs4774518
SNP Nexus

SNPshotrs4774518
SNPdbers4774518
MSV3drs4774518
GWAS Ctlgrs4774518
GMAF0.0225
Max Magnitude0
OMIM612772
Desc
Variant0001
Relatedalso
? (C;C) (C;T)


ClinVar
Risk rs4774518(G,T;G,T)
Alt rs4774518(G,T;G,T)
Reference rs4774518(C;C)
Significance Pathogenic
Disease Thyroglobulin synthesis defect
Variation info
Gene DUOXA1 DUOXA2
CLNDBN Thyroglobulin synthesis defect
Reversed 0
HGVS NC_000015.9:g.45409472C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000000473.2,