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rs121434322

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434322(C;T)
Make rs121434322(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position59843998
GeneGIF
is asnp
is mentioned by
dbSNPrs121434322
dbSNP (classic)rs121434322
ClinGenrs121434322
ebirs121434322
HLIrs121434322
Exacrs121434322
Gnomadrs121434322
Varsomers121434322
LitVarrs121434322
Maprs121434322
PheGenIrs121434322
Biobankrs121434322
1000 genomesrs121434322
hgdprs121434322
ensemblrs121434322
geneviewrs121434322
scholarrs121434322
googlers121434322
pharmgkbrs121434322
gwascentralrs121434322
openSNPrs121434322
23andMers121434322
SNPshotrs121434322
SNPdbers121434322
MSV3drs121434322
GWAS Ctlgrs121434322
Max Magnitude0
OMIM609342
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121434322(A;A) rs121434322(T;T)
Alt rs121434322(A;A) rs121434322(T;T)
Reference Rs121434322(C;C)
Significance Pathogenic
Disease Intrinsic factor deficiency
Variation info
Gene GIF
CLNDBN Intrinsic factor deficiency
Reversed 1
HGVS NC_000011.9:g.59611471G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000001816.2,