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rs121909174

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121909174(A;C)
Make rs121909174(C;C)
ReferenceGRCh38 38.1/141
Chromosome19
Position17881961
GeneSLC5A5
is asnp
is mentioned by
dbSNPrs121909174
dbSNP (classic)rs121909174
ClinGenrs121909174
ebirs121909174
HLIrs121909174
Exacrs121909174
Gnomadrs121909174
Varsomers121909174
LitVarrs121909174
Maprs121909174
PheGenIrs121909174
Biobankrs121909174
1000 genomesrs121909174
hgdprs121909174
ensemblrs121909174
geneviewrs121909174
scholarrs121909174
googlers121909174
pharmgkbrs121909174
gwascentralrs121909174
openSNPrs121909174
23andMers121909174
SNPshotrs121909174
SNPdbers121909174
MSV3drs121909174
GWAS Ctlgrs121909174
Max Magnitude0
OMIM601843
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121909174(C;C)
Alt rs121909174(C;C)
Reference Rs121909174(A;A)
Significance Pathogenic
Disease Thyroid dyshormonogenesis 1
Variation info
Gene SLC5A5
CLNDBN Thyroid dyshormonogenesis 1
Reversed 0
HGVS NC_000019.9:g.17992770A>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000008103.2,