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rs2069566

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs2069566(A;A)
Make rs2069566(A;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position133017940
GeneTG
is asnp
is mentioned by
dbSNPrs2069566
ebirs2069566
HLIrs2069566
Exacrs2069566
Varsomers2069566
Maprs2069566
PheGenIrs2069566
hapmaprs2069566
1000 genomesrs2069566
hgdprs2069566
ensemblrs2069566
gopubmedrs2069566
geneviewrs2069566
scholarrs2069566
googlers2069566
pharmgkbrs2069566
gwascentralrs2069566
openSNPrs2069566
23andMers2069566
23andMe allrs2069566
SNP Nexus

SNPshotrs2069566
SNPdbers2069566
MSV3drs2069566
GWAS Ctlgrs2069566
Max Magnitude0
OMIM188450
Desc
Variant0012
Relatedalso
ClinVar
Risk rs2069566(A;A)
Alt rs2069566(A;A)
Reference rs2069566(G;G)
Significance Pathogenic
Disease Iodotyrosyl coupling defect
Variation info
Gene TG
CLNDBN Iodotyrosyl coupling defect
Reversed 0
HGVS NC_000008.10:g.134030185G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000013537.23,