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rs121909176

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121909176(C;G)
Make rs121909176(G;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position17877823
GeneSLC5A5
is asnp
is mentioned by
dbSNPrs121909176
dbSNP (classic)rs121909176
ClinGenrs121909176
ebirs121909176
HLIrs121909176
Exacrs121909176
Gnomadrs121909176
Varsomers121909176
LitVarrs121909176
Maprs121909176
PheGenIrs121909176
Biobankrs121909176
1000 genomesrs121909176
hgdprs121909176
ensemblrs121909176
geneviewrs121909176
scholarrs121909176
googlers121909176
pharmgkbrs121909176
gwascentralrs121909176
openSNPrs121909176
23andMers121909176
SNPshotrs121909176
SNPdbers121909176
MSV3drs121909176
GWAS Ctlgrs121909176
Max Magnitude0
OMIM601843
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121909176(G;G)
Alt rs121909176(G;G)
Reference Rs121909176(C;C)
Significance Pathogenic
Disease Thyroid dyshormonogenesis 1
Variation info
Gene SLC5A5
CLNDBN Thyroid dyshormonogenesis 1
Reversed 0
HGVS NC_000019.9:g.17988632C>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000008105.3,