rs121912649

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs121912649(A;A)

Make rs121912649(A;G)

Reference

GRCh38 38.1/141

Chromosome

8

Position

132967797

Gene

TG

is a	snp
is	mentioned by
dbSNP	rs121912649
dbSNP (classic)	rs121912649
ClinGen	rs121912649
ebi	rs121912649
HLI	rs121912649
Exac	rs121912649
Gnomad	rs121912649
Varsome	rs121912649
LitVar	rs121912649
Map	rs121912649
PheGenI	rs121912649
Biobank	rs121912649
1000 genomes	rs121912649
hgdp	rs121912649
ensembl	rs121912649
geneview	rs121912649
scholar	rs121912649
google	rs121912649
pharmgkb	rs121912649
gwascentral	rs121912649
openSNP	rs121912649
23andMe	rs121912649
SNPshot	rs121912649
SNPdbe	rs121912649
MSV3d	rs121912649
GWAS Ctlg	rs121912649

Max Magnitude

0

OMIM	188450
Desc
Variant	0016
Related	also

ClinVar
Risk	rs121912649(A;A)
Alt	rs121912649(A;A)
Reference	Rs121912649(G;G)
Significance	Pathogenic
Disease	Iodotyrosyl coupling defect
Variation	info
Gene	TG
CLNDBN	Iodotyrosyl coupling defect
Reversed	0
HGVS	NC_000008.10:g.133980042G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013541.23,