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rs104894111

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894111(C;T)
Make rs104894111(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position97854218
GeneFOXE1
is asnp
is mentioned by
dbSNPrs104894111
dbSNP (classic)rs104894111
ClinGenrs104894111
ebirs104894111
HLIrs104894111
Exacrs104894111
Gnomadrs104894111
Varsomers104894111
LitVarrs104894111
Maprs104894111
PheGenIrs104894111
Biobankrs104894111
1000 genomesrs104894111
hgdprs104894111
ensemblrs104894111
geneviewrs104894111
scholarrs104894111
googlers104894111
pharmgkbrs104894111
gwascentralrs104894111
openSNPrs104894111
23andMers104894111
SNPshotrs104894111
SNPdbers104894111
MSV3drs104894111
GWAS Ctlgrs104894111
Max Magnitude0
OMIM602617
Desc
Variant0003
Relatedalso
ClinVar
Risk rs104894111(T;T)
Alt rs104894111(T;T)
Reference Rs104894111(C;C)
Significance Pathogenic
Disease Hypothyroidism
Variation info
Gene LOC101928337 FOXE1
CLNDBN Hypothyroidism, thyroidal, with spiky hair and cleft palate
Reversed 0
HGVS NC_000009.11:g.100616500C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000007404.3,