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rs530719719

From SNPedia

Orientationplus
Geno Mag Summary
(GAAC;GAAC) 0 common in clinvar
Make rs530719719(-;-)
Make rs530719719(-;CAAG)
Make rs530719719(CAAG;CAAG)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position45101228
GeneDUOX2
is asnp
is mentioned by
dbSNPrs530719719
ebirs530719719
HLIrs530719719
Exacrs530719719
Varsomers530719719
Maprs530719719
PheGenIrs530719719
hapmaprs530719719
1000 genomesrs530719719
hgdprs530719719
ensemblrs530719719
gopubmedrs530719719
geneviewrs530719719
scholarrs530719719
googlers530719719
pharmgkbrs530719719
gwascentralrs530719719
openSNPrs530719719
23andMers530719719
23andMe allrs530719719
SNP Nexus

SNPshotrs530719719
SNPdbers530719719
MSV3drs530719719
GWAS Ctlgrs530719719
Max Magnitude0

minor allele should be reclassified as benign according to [PMID 26990548OA-icon.png]

ClinVar
Risk rs530719719(;)
Alt rs530719719(;)
Reference rs530719719(GAAC;GAAC)
Significance Pathogenic
Disease Thyroid dyshormonogenesis 6
Variation info
Gene DUOX2
CLNDBN Thyroid dyshormonogenesis 6
Reversed 0
HGVS NC_000015.9:g.45393426_45393429delGAAC
CLNSRC
CLNACC RCV000169659.1,