rs2288493

Orientation

plus

Stabilized

plus

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

Make rs2288493(C;T)

Make rs2288493(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

14

Position

81145262

Gene	LOC101928462, TSHR

is a	snp
is	mentioned by
dbSNP	rs2288493
dbSNP (classic)	rs2288493
ClinGen	rs2288493
ebi	rs2288493
HLI	rs2288493
Exac	rs2288493
Gnomad	rs2288493
Varsome	rs2288493
LitVar	rs2288493
Map	rs2288493
PheGenI	rs2288493
Biobank	rs2288493
1000 genomes	rs2288493
hgdp	rs2288493
ensembl	rs2288493
geneview	rs2288493
scholar	rs2288493
google	rs2288493
pharmgkb	rs2288493
gwascentral	rs2288493
openSNP	rs2288493
23andMe	rs2288493
SNPshot	rs2288493
SNPdbe	rs2288493
MSV3d	rs2288493
GWAS Ctlg	rs2288493

Max Magnitude

0

?	(C;C) (C;T) (T;T)	28

[PMID 28424481] The first genome-wide association study identifying new susceptibility loci for obstetric antiphospholipid syndrome.

ClinVar
Risk	rs2288493(T;T)
Alt	rs2288493(T;T)
Reference	Rs2288493(C;C)
Significance	Probable-non-pathogenic
Disease	Hyperthyroidism Congenital hypothyroidism
Variation	info
Gene	LOC101928431 TSHR
CLNDBN	Hyperthyroidism, nonautoimmune Congenital hypothyroidism
Reversed	0
HGVS	NC_000014.8:g.81611606C>T
CLNSRC
CLNACC	RCV000281480.1, RCV000373593.1,