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rs104894110

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894110(C;T)
Make rs104894110(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position97854108
GeneFOXE1
is asnp
is mentioned by
dbSNPrs104894110
dbSNP (classic)rs104894110
ClinGenrs104894110
ebirs104894110
HLIrs104894110
Exacrs104894110
Gnomadrs104894110
Varsomers104894110
LitVarrs104894110
Maprs104894110
PheGenIrs104894110
Biobankrs104894110
1000 genomesrs104894110
hgdprs104894110
ensemblrs104894110
geneviewrs104894110
scholarrs104894110
googlers104894110
pharmgkbrs104894110
gwascentralrs104894110
openSNPrs104894110
23andMers104894110
SNPshotrs104894110
SNPdbers104894110
MSV3drs104894110
GWAS Ctlgrs104894110
Max Magnitude0
OMIM602617
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104894110(T;T)
Alt rs104894110(T;T)
Reference Rs104894110(C;C)
Significance Pathogenic
Disease Bamforth syndrome
Variation info
Gene FOXE1 LOC101928337
CLNDBN Bamforth syndrome
Reversed 0
HGVS NC_000009.11:g.100616390C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000007402.5,