rs28999969

Orientation

minus

Stabilized

minus

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

Make rs28999969(A;A)

Make rs28999969(A;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

24127649

Gene

THRB

is a	snp
is	mentioned by
dbSNP	rs28999969
dbSNP (classic)	rs28999969
ClinGen	rs28999969
ebi	rs28999969
HLI	rs28999969
Exac	rs28999969
Gnomad	rs28999969
Varsome	rs28999969
LitVar	rs28999969
Map	rs28999969
PheGenI	rs28999969
Biobank	rs28999969
1000 genomes	rs28999969
hgdp	rs28999969
ensembl	rs28999969
geneview	rs28999969
scholar	rs28999969
google	rs28999969
pharmgkb	rs28999969
gwascentral	rs28999969
openSNP	rs28999969
23andMe	rs28999969
SNPshot	rs28999969
SNPdbe	rs28999969
MSV3d	rs28999969
GWAS Ctlg	rs28999969

Max Magnitude

0

OMIM	190160
Desc	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT
Variant	0007
Related	also

ClinVar
Risk	rs28999969(A;A)
Alt	rs28999969(A;A)
Reference	Rs28999969(G;G)
Significance	Pathogenic
Disease	Thyroid hormone resistance not provided
Variation	info
Gene	THRB
CLNDBN	Thyroid hormone resistance, generalized, autosomal dominant not provided
Reversed	1
HGVS	NC_000003.11:g.24169140C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013370.22, RCV000424820.1,