rs121908869

Orientation

plus

Stabilized

plus

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

Make rs121908869(C;C)

Make rs121908869(C;G)

Reference

GRCh38 38.1/141

Chromosome

14

Position

80955802

Gene	CEP128, TSHR

is a	snp
is	mentioned by
dbSNP	rs121908869
dbSNP (classic)	rs121908869
ClinGen	rs121908869
ebi	rs121908869
HLI	rs121908869
Exac	rs121908869
Gnomad	rs121908869
Varsome	rs121908869
LitVar	rs121908869
Map	rs121908869
PheGenI	rs121908869
Biobank	rs121908869
1000 genomes	rs121908869
hgdp	rs121908869
ensembl	rs121908869
geneview	rs121908869
scholar	rs121908869
google	rs121908869
pharmgkb	rs121908869
gwascentral	rs121908869
openSNP	rs121908869
23andMe	rs121908869
SNPshot	rs121908869
SNPdbe	rs121908869
MSV3d	rs121908869
GWAS Ctlg	rs121908869

Max Magnitude

0

OMIM	603372
Desc
Variant	0013
Related	also

ClinVar
Risk	rs121908869(C;C)
Alt	rs121908869(C;C)
Reference	Rs121908869(G;G)
Significance	Pathogenic
Disease	Hypothyroidism Developmental delay Seizure Disorders autistic features
Variation	info
Gene	TSHR
CLNDBN	Hypothyroidism, congenital, nongoitrous, 1 Developmental delay Seizure Disorders autistic features
Reversed	0
HGVS	NC_000014.8:g.81422146G>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000006812.4, RCV000415318.1,