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rs121908869

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908869(C;C)
Make rs121908869(C;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position80955802
GeneCEP128, TSHR
is asnp
is mentioned by
dbSNPrs121908869
dbSNP (classic)rs121908869
ClinGenrs121908869
ebirs121908869
HLIrs121908869
Exacrs121908869
Gnomadrs121908869
Varsomers121908869
LitVarrs121908869
Maprs121908869
PheGenIrs121908869
Biobankrs121908869
1000 genomesrs121908869
hgdprs121908869
ensemblrs121908869
geneviewrs121908869
scholarrs121908869
googlers121908869
pharmgkbrs121908869
gwascentralrs121908869
openSNPrs121908869
23andMers121908869
SNPshotrs121908869
SNPdbers121908869
MSV3drs121908869
GWAS Ctlgrs121908869
Max Magnitude0
OMIM603372
Desc
Variant0013
Relatedalso
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,