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rs77335374

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs77335374(A;G)
Make rs77335374(G;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position73411994
GeneALB
is asnp
is mentioned by
dbSNPrs77335374
dbSNP (classic)rs77335374
ClinGenrs77335374
ebirs77335374
HLIrs77335374
Exacrs77335374
Gnomadrs77335374
Varsomers77335374
LitVarrs77335374
Maprs77335374
PheGenIrs77335374
Biobankrs77335374
1000 genomesrs77335374
hgdprs77335374
ensemblrs77335374
geneviewrs77335374
scholarrs77335374
googlers77335374
pharmgkbrs77335374
gwascentralrs77335374
openSNPrs77335374
23andMers77335374
SNPshotrs77335374
SNPdbers77335374
MSV3drs77335374
GWAS Ctlgrs77335374
Max Magnitude0
OMIM103600
Desc
Variant0027
Relatedalso
ClinVar
Risk rs77335374(G;G) rs77335374(T;T)
Alt rs77335374(G;G) rs77335374(T;T)
Reference Rs77335374(A;A)
Significance Pathogenic
Disease Analbuminemia
Variation info
Gene ALB
CLNDBN Analbuminemia
Reversed 0
HGVS NC_000004.11:g.74277711A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000019869.28,


[PMID 3353369OA-icon.png] Splicing mutation in human hereditary analbuminemia.