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rs74821926

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs74821926(A;A)
Make rs74821926(A;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position73404398
GeneALB
is asnp
is mentioned by
dbSNPrs74821926
dbSNP (classic)rs74821926
ClinGenrs74821926
ebirs74821926
HLIrs74821926
Exacrs74821926
Gnomadrs74821926
Varsomers74821926
LitVarrs74821926
Maprs74821926
PheGenIrs74821926
Biobankrs74821926
1000 genomesrs74821926
hgdprs74821926
ensemblrs74821926
geneviewrs74821926
scholarrs74821926
googlers74821926
pharmgkbrs74821926
gwascentralrs74821926
openSNPrs74821926
23andMers74821926
SNPshotrs74821926
SNPdbers74821926
MSV3drs74821926
GWAS Ctlgrs74821926
Max Magnitude0
OMIM103600
Desc
Variant0002
Relatedalso
OMIM103600
Desc
Variant0003
Relatedalso
OMIM103600
Desc
Variant0031
Relatedalso
ClinVar
Risk rs74821926(A;A) rs74821926(C;C) rs74821926(T;T)
Alt rs74821926(A;A) rs74821926(C;C) rs74821926(T;T)
Reference Rs74821926(G;G)
Significance Other
Disease Alloalbuminemia Ehlers-Danlos syndrome PROALBUMIN TAKEFU PROALBUMIN JAFFNA
Variation info
Gene ALB
CLNDBN Alloalbuminemia Ehlers-Danlos syndrome, procollagen proteinase deficient PROALBUMIN TAKEFU PROALBUMIN JAFFNA
Reversed 0
HGVS NC_000004.11:g.74270115G>A; NC_000004.11:g.74270115G>C; NC_000004.11:g.74270115G>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000019821.3, RCV000144686.2, RCV000019825.3, RCV000144687.3, RCV000019874.1,


[PMID 154698] [Treatment of idiopathic evolutional scoliosis with night-time vertebral traction and dynamic traction].


[PMID 683332] A circulating variant of human proalbumin.


[PMID 1946412OA-icon.png] Genetic variants of serum albumin in Americans and Japanese.


[PMID 7297678] Proalbumin Lille, a new variant of human serum albumin.


[PMID 7353034] Functional abnormality of proalbumin Christchurch.


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


[PMID 3478700OA-icon.png] Structural changes and metal binding by proalbumins and other amino-terminal genetic variants of human serum albumin.


[PMID 2792379] A new proalbumin variant: albumin Jaffna (-1 Arg----Leu).