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rs2235544

From SNPedia

Orientationplus
Stabilizedplus
Make rs2235544(A;A)
Make rs2235544(A;C)
Make rs2235544(C;C)
ReferenceGRCh38 38.1/141
Chromosome1
Position53909897
GeneDIO1
is asnp
is mentioned by
dbSNPrs2235544
ebirs2235544
HLIrs2235544
Exacrs2235544
Varsomers2235544
Maprs2235544
PheGenIrs2235544
hapmaprs2235544
1000 genomesrs2235544
hgdprs2235544
ensemblrs2235544
gopubmedrs2235544
geneviewrs2235544
scholarrs2235544
googlers2235544
pharmgkbrs2235544
gwascentralrs2235544
openSNPrs2235544
23andMers2235544
23andMe allrs2235544
SNP Nexus

SNPshotrs2235544
SNPdbers2235544
MSV3drs2235544
GWAS Ctlgrs2235544
GMAF0.4449
Max Magnitude
? (A;A) (A;C) (C;C) 28
10.1210/jc.2008-0397 rs2235544, was associated with the free T3 to free T4 ratio with genome-wide levels of significance (P = 3.6 x 10–13). The C-allele of this SNP was associated with increased deiodinase 1 (D1) function with resulting increase in free T3/T4 ratio and free T3 and decrease in free T4 and rT3.

[PMID 18492748OA-icon.png] A common variation in deiodinase 1 gene DIO1 is associated with the relative levels of free thyroxine and triiodothyronine.

[PMID 18815314OA-icon.png] Cellular and molecular basis of deiodinase-regulated thyroid hormone signaling.

GWAS snp
PMID [PMID 23408906OA-icon.png]
Trait Thyroid hormone levels
Title A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.
Risk Allele A
P-val 3E-18
Odds Ratio .13 [0.1-0.16] unit increase
GWAS snp
PMID [PMID 23502783]
Trait Multiple myeloma (hyperdiploidy)
Title The CCND1 c.870G>A polymorphism is a risk factor for t(11;14)(q13;q32) multiple myeloma.
Risk Allele A
P-val 6E-7
Odds Ratio 1.30 [1.17-1.44]