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rs199599591

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199599591(A;A)
Make rs199599591(A;C)
ReferenceGRCh38.p2 38.2/146
Chromosome8
Position132941493
GeneTG
is asnp
is mentioned by
dbSNPrs199599591
dbSNP (classic)rs199599591
ClinGenrs199599591
ebirs199599591
HLIrs199599591
Exacrs199599591
Gnomadrs199599591
Varsomers199599591
LitVarrs199599591
Maprs199599591
PheGenIrs199599591
Biobankrs199599591
1000 genomesrs199599591
hgdprs199599591
ensemblrs199599591
geneviewrs199599591
scholarrs199599591
googlers199599591
pharmgkbrs199599591
gwascentralrs199599591
openSNPrs199599591
23andMers199599591
SNPshotrs199599591
SNPdbers199599591
MSV3drs199599591
GWAS Ctlgrs199599591
Max Magnitude0
ClinVar
Risk rs199599591(A;A) rs199599591(T;T)
Alt rs199599591(A;A) rs199599591(T;T)
Reference Rs199599591(C;C)
Significance Pathogenic
Disease Iodotyrosyl coupling defect
Variation info
Gene TG
CLNDBN Iodotyrosyl coupling defect
Reversed 0
HGVS NC_000008.10:g.133953738C>A
CLNSRC
CLNACC RCV000190631.1,