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rs75353611

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in complete genomics
Make rs75353611(A;T)
Make rs75353611(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position73404401
GeneALB
is asnp
is mentioned by
dbSNPrs75353611
ebirs75353611
HLIrs75353611
Exacrs75353611
Varsomers75353611
Maprs75353611
PheGenIrs75353611
hapmaprs75353611
1000 genomesrs75353611
hgdprs75353611
ensemblrs75353611
gopubmedrs75353611
geneviewrs75353611
scholarrs75353611
googlers75353611
pharmgkbrs75353611
gwascentralrs75353611
openSNPrs75353611
23andMers75353611
23andMe allrs75353611
SNP Nexus

SNPshotrs75353611
SNPdbers75353611
MSV3drs75353611
GWAS Ctlgrs75353611
Max Magnitude0
OMIM103600
Desc
Variant0004
Relatedalso
ClinVar
Risk rs75353611(T;T)
Alt rs75353611(T;T)
Reference rs75353611(A;A)
Significance Pathogenic
Disease Alloalbuminemia ALBUMIN BLENHEIM
Variation info
Gene ALB
CLNDBN Alloalbuminemia ALBUMIN BLENHEIM
Reversed 0
HGVS NC_000004.11:g.74270118A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000019827.3, RCV000144688.2,


[PMID 2679890] Novel human proalbumin variant with intact dibasic sequence facilitates identification of its converting enzyme.


[PMID 8037675OA-icon.png] Modified high-affinity binding of Ni2+, Ca2+ and Zn2+ to natural mutants of human serum albumin and proalbumin.