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rs78784172

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs78784172(C;C)
Make rs78784172(C;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position73417671
GeneALB
is asnp
is mentioned by
dbSNPrs78784172
dbSNP (classic)rs78784172
ClinGenrs78784172
ebirs78784172
HLIrs78784172
Exacrs78784172
Gnomadrs78784172
Varsomers78784172
LitVarrs78784172
Maprs78784172
PheGenIrs78784172
Biobankrs78784172
1000 genomesrs78784172
hgdprs78784172
ensemblrs78784172
geneviewrs78784172
scholarrs78784172
googlers78784172
pharmgkbrs78784172
gwascentralrs78784172
openSNPrs78784172
23andMers78784172
SNPshotrs78784172
SNPdbers78784172
MSV3drs78784172
GWAS Ctlgrs78784172
Max Magnitude0
ClinVar
Risk rs78784172(C;C)
Alt rs78784172(C;C)
Reference Rs78784172(T;T)
Significance Untested
Disease Analbuminemia
Variation info
Gene ALB
CLNDBN Analbuminemia
Reversed 0
HGVS NC_000004.11:g.74283388T>C
CLNSRC ClinVar
CLNACC RCV000144395.1,


[PMID 17644793] Analbuminemia produced by a novel splicing mutation.