rs28999970

Orientation

minus

Stabilized

minus

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

Make rs28999970(G;T)

Make rs28999970(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

24127609

Gene

THRB

is a	snp
is	mentioned by
dbSNP	rs28999970
dbSNP (classic)	rs28999970
ClinGen	rs28999970
ebi	rs28999970
HLI	rs28999970
Exac	rs28999970
Gnomad	rs28999970
Varsome	rs28999970
LitVar	rs28999970
Map	rs28999970
PheGenI	rs28999970
Biobank	rs28999970
1000 genomes	rs28999970
hgdp	rs28999970
ensembl	rs28999970
geneview	rs28999970
scholar	rs28999970
google	rs28999970
pharmgkb	rs28999970
gwascentral	rs28999970
openSNP	rs28999970
23andMe	rs28999970
SNPshot	rs28999970
SNPdbe	rs28999970
MSV3d	rs28999970
GWAS Ctlg	rs28999970

Max Magnitude

0

OMIM	190160
Desc	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT
Variant	0008
Related	also

ClinVar
Risk	rs28999970(A;A) rs28999970(T;T)
Alt	rs28999970(A;A) rs28999970(T;T)
Reference	Rs28999970(G;G)
Significance	Pathogenic
Disease	Thyroid hormone resistance Thyroid hormone resistance
Variation	info
Gene	THRB
CLNDBN	Thyroid hormone resistance, generalized, autosomal dominant Thyroid hormone resistance, generalized
Reversed	1
HGVS	NC_000003.11:g.24169100C>A; NC_000003.11:g.24169100C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013372.23, RCV000013371.23,