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rs121909175

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121909175(A;A)
Make rs121909175(A;C)
ReferenceGRCh38 38.1/141
Chromosome19
Position17877840
GeneSLC5A5
is asnp
is mentioned by
dbSNPrs121909175
dbSNP (classic)rs121909175
ClinGenrs121909175
ebirs121909175
HLIrs121909175
Exacrs121909175
Gnomadrs121909175
Varsomers121909175
LitVarrs121909175
Maprs121909175
PheGenIrs121909175
Biobankrs121909175
1000 genomesrs121909175
hgdprs121909175
ensemblrs121909175
geneviewrs121909175
scholarrs121909175
googlers121909175
pharmgkbrs121909175
gwascentralrs121909175
openSNPrs121909175
23andMers121909175
SNPshotrs121909175
SNPdbers121909175
MSV3drs121909175
GWAS Ctlgrs121909175
Max Magnitude0
OMIM601843
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121909175(A;A)
Alt rs121909175(A;A)
Reference Rs121909175(C;C)
Significance Pathogenic
Disease Thyroid dyshormonogenesis 1
Variation info
Gene SLC5A5
CLNDBN Thyroid dyshormonogenesis 1
Reversed 0
HGVS NC_000019.9:g.17988649C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000008104.2,