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rs77449454

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(A;A) 0 common in clinvar
Make rs77449454(-;A)
ReferenceGRCh38 38.1/141
Chromosome4
Position73413448
GeneALB
is asnp
is mentioned by
dbSNPrs77449454
dbSNP (classic)rs77449454
ClinGenrs77449454
ebirs77449454
HLIrs77449454
Exacrs77449454
Gnomadrs77449454
Varsomers77449454
LitVarrs77449454
Maprs77449454
PheGenIrs77449454
Biobankrs77449454
1000 genomesrs77449454
hgdprs77449454
ensemblrs77449454
geneviewrs77449454
scholarrs77449454
googlers77449454
pharmgkbrs77449454
gwascentralrs77449454
openSNPrs77449454
23andMers77449454
SNPshotrs77449454
SNPdbers77449454
MSV3drs77449454
GWAS Ctlgrs77449454
Max Magnitude0
ClinVar
Risk Rs77449454(A;A)
Alt Rs77449454(A;A)
Reference Rs77449454(-;-)
Significance Pathogenic
Disease Analbuminemia
Variation info
Gene ALB
CLNDBN Analbuminemia
Reversed 0
HGVS NC_000004.11:g.74279165dupA
CLNSRC OMIM Allelic Variant
CLNACC RCV000019885.28,


[PMID 8134387OA-icon.png] A nucleotide insertion and frameshift cause analbuminemia in an Italian family.