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rs121909180

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121909180(A;A)
Make rs121909180(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position17882160
GeneSLC5A5
is asnp
is mentioned by
dbSNPrs121909180
dbSNP (classic)rs121909180
ClinGenrs121909180
ebirs121909180
HLIrs121909180
Exacrs121909180
Gnomadrs121909180
Varsomers121909180
LitVarrs121909180
Maprs121909180
PheGenIrs121909180
Biobankrs121909180
1000 genomesrs121909180
hgdprs121909180
ensemblrs121909180
geneviewrs121909180
scholarrs121909180
googlers121909180
pharmgkbrs121909180
gwascentralrs121909180
openSNPrs121909180
23andMers121909180
SNPshotrs121909180
SNPdbers121909180
MSV3drs121909180
GWAS Ctlgrs121909180
Max Magnitude0
OMIM601843
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121909180(A;A)
Alt rs121909180(A;A)
Reference Rs121909180(G;G)
Significance Pathogenic
Disease Thyroid dyshormonogenesis 1
Variation info
Gene SLC5A5
CLNDBN Thyroid dyshormonogenesis 1
Reversed 0
HGVS NC_000019.9:g.17992969G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000008109.2,