Have questions? Visit https://www.reddit.com/r/SNPedia

rs180223

From SNPedia

Orientationplus
Stabilizedplus
Make rs180223(G;G)
Make rs180223(G;T)
Make rs180223(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position132888007
GeneTG
is asnp
is mentioned by
dbSNPrs180223
ebirs180223
HLIrs180223
Exacrs180223
Varsomers180223
Maprs180223
PheGenIrs180223
hapmaprs180223
1000 genomesrs180223
hgdprs180223
ensemblrs180223
gopubmedrs180223
geneviewrs180223
scholarrs180223
googlers180223
pharmgkbrs180223
gwascentralrs180223
openSNPrs180223
23andMers180223
23andMe allrs180223
SNP Nexus

SNPshotrs180223
SNPdbers180223
MSV3drs180223
GWAS Ctlgrs180223
GMAF0.36
Max Magnitude
? (G;G) (G;T) (T;T) 28
Venter snp
Source plos
Gene TG
allele G
frequency 0.466
sift TOLERATED
HuRef 1103652448042
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
Variant0009
Relatedalso


ClinVar
Risk rs180223(G;G)
Alt rs180223(G;G)
Reference rs180223(T;T)
Significance Other
Disease Autoimmune thyroid disease 3
Variation info
Gene TG
CLNDBN Autoimmune thyroid disease 3
Reversed 0
HGVS NC_000008.10:g.133900252T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000013534.2,



GET Evidence
TG-S734A
aa_change Ser734Ala
aa_change_short S734A
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.591653
summary