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rs2076740

From SNPedia

Orientationplus
Stabilizedplus
Make rs2076740(C;C)
Make rs2076740(C;T)
Make rs2076740(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position132971813
GeneTG
is asnp
is mentioned by
dbSNPrs2076740
ebirs2076740
HLIrs2076740
Exacrs2076740
Varsomers2076740
Maprs2076740
PheGenIrs2076740
hapmaprs2076740
1000 genomesrs2076740
hgdprs2076740
ensemblrs2076740
gopubmedrs2076740
geneviewrs2076740
scholarrs2076740
googlers2076740
pharmgkbrs2076740
gwascentralrs2076740
openSNPrs2076740
23andMers2076740
23andMe allrs2076740
SNP Nexus

SNPshotrs2076740
SNPdbers2076740
MSV3drs2076740
GWAS Ctlgrs2076740
Merged fromRs11535853
GMAF0.3301
Max Magnitude
? (C;C) (C;T) (T;T) 28
OMIM188450
Desc
Variant0008
Relatedalso

[PMID 22265031] Epistasis between the HSD17B4 and TG polymorphisms is associated with premature ovarian failure

ClinVar
Risk rs2076740(T;T)
Alt rs2076740(T;T)
Reference rs2076740(C;C)
Significance Other
Disease Autoimmune thyroid disease 3
Variation info
Gene TG
CLNDBN Autoimmune thyroid disease 3
Reversed 0
HGVS NC_000008.10:g.133984058C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013533.2,


GET Evidence
TG-R1999W
aa_change Arg1999Trp
aa_change_short R1999W
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.394776
summary