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rs853326

From SNPedia

Orientationminus
Stabilizedminus
Make rs853326(C;C)
Make rs853326(C;T)
Make rs853326(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position132897729
GeneTG
is asnp
is mentioned by
dbSNPrs853326
ebirs853326
HLIrs853326
Exacrs853326
Varsomers853326
Maprs853326
PheGenIrs853326
hapmaprs853326
1000 genomesrs853326
hgdprs853326
ensemblrs853326
gopubmedrs853326
geneviewrs853326
scholarrs853326
googlers853326
pharmgkbrs853326
gwascentralrs853326
openSNPrs853326
23andMers853326
23andMe allrs853326
SNP Nexus

SNPshotrs853326
SNPdbers853326
MSV3drs853326
GWAS Ctlgrs853326
GMAF0.3641
Max Magnitude
? (C;C) (C;T) (T;T) 28
Venter snp
Source plos
Gene TG
allele G
frequency 0.458
sift TOLERATED
HuRef 1103652448063
Disease Association Defects in TG are a cause of some forms of goiter (MIM:188450). Goiter is an enlargement of the thyroid gland. This is sometimes linked to hypothyroidism.



OMIM188450
Desc
Variant0010
Relatedalso


ClinVar
Risk rs853326(C;C)
Alt rs853326(C;C)
Reference rs853326(T;T)
Significance Other
Disease Autoimmune thyroid disease 3
Variation info
Gene TG
CLNDBN Autoimmune thyroid disease 3
Reversed 1
HGVS NC_000008.10:g.133909974A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000013535.2,



GET Evidence
TG-M1028V
aa_change Met1028Val
aa_change_short M1028V
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.590723
summary