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rs121909178

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121909178(C;C)
Make rs121909178(C;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position17872596
GeneSLC5A5
is asnp
is mentioned by
dbSNPrs121909178
dbSNP (classic)rs121909178
ClinGenrs121909178
ebirs121909178
HLIrs121909178
Exacrs121909178
Gnomadrs121909178
Varsomers121909178
LitVarrs121909178
Maprs121909178
PheGenIrs121909178
Biobankrs121909178
1000 genomesrs121909178
hgdprs121909178
ensemblrs121909178
geneviewrs121909178
scholarrs121909178
googlers121909178
pharmgkbrs121909178
gwascentralrs121909178
openSNPrs121909178
23andMers121909178
SNPshotrs121909178
SNPdbers121909178
MSV3drs121909178
GWAS Ctlgrs121909178
Max Magnitude0
OMIM601843
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121909178(A;A) rs121909178(C;C)
Alt rs121909178(A;A) rs121909178(C;C)
Reference Rs121909178(G;G)
Significance Pathogenic
Disease Thyroid dyshormonogenesis 1
Variation info
Gene SLC5A5
CLNDBN Thyroid dyshormonogenesis 1
Reversed 0
HGVS NC_000019.9:g.17983405G>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000008107.2,