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rs28937575

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs28937575(A;A)
Make rs28937575(A;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position97854084
GeneFOXE1
is asnp
is mentioned by
dbSNPrs28937575
dbSNP (classic)rs28937575
ClinGenrs28937575
ebirs28937575
HLIrs28937575
Exacrs28937575
Gnomadrs28937575
Varsomers28937575
LitVarrs28937575
Maprs28937575
PheGenIrs28937575
Biobankrs28937575
1000 genomesrs28937575
hgdprs28937575
ensemblrs28937575
geneviewrs28937575
scholarrs28937575
googlers28937575
pharmgkbrs28937575
gwascentralrs28937575
openSNPrs28937575
23andMers28937575
SNPshotrs28937575
SNPdbers28937575
MSV3drs28937575
GWAS Ctlgrs28937575
Max Magnitude0
OMIM602617
DescHYPOTHYROIDISM, ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE
Variant0002
Relatedalso


ClinVar
Risk rs28937575(A;A)
Alt rs28937575(A;A)
Reference Rs28937575(G;G)
Significance Pathogenic
Disease Bamforth syndrome
Variation info
Gene LOC101928337 FOXE1
CLNDBN Bamforth syndrome
Reversed 0
HGVS NC_000009.11:g.100616366G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000007403.4,