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rs75002628

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs75002628(A;A)
Make rs75002628(A;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position73412007
GeneALB
is asnp
is mentioned by
dbSNPrs75002628
ebirs75002628
HLIrs75002628
Exacrs75002628
Varsomers75002628
Maprs75002628
PheGenIrs75002628
hapmaprs75002628
1000 genomesrs75002628
hgdprs75002628
ensemblrs75002628
gopubmedrs75002628
geneviewrs75002628
scholarrs75002628
googlers75002628
pharmgkbrs75002628
gwascentralrs75002628
openSNPrs75002628
23andMers75002628
23andMe allrs75002628
SNP Nexus

SNPshotrs75002628
SNPdbers75002628
MSV3drs75002628
GWAS Ctlgrs75002628
GMAF0.0009183
Max Magnitude0
OMIM103600
Desc
Variant0041
Relatedalso
OMIM103600
Desc
Variant0055
Relatedalso
ClinVar
Risk rs75002628(A,C;A,C)
Alt rs75002628(A,C;A,C)
Reference rs75002628(G;G)
Significance Other
Disease Hyperthyroxinemia
Variation info
Gene ALB
CLNDBN Hyperthyroxinemia, familial dysalbuminemic
Reversed 0
HGVS NC_000004.11:g.74277724G>A; NC_000004.11:g.74277724G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000019886.28, RCV000019899.28,


[PMID 8048949] An identical missense mutation in the albumin gene results in familial dysalbuminemic hyperthyroxinemia in 8 unrelated families.


[PMID 8064810OA-icon.png] A point mutation in the human serum albumin gene results in familial dysalbuminaemic hyperthyroxinaemia.


[PMID 10728776] Familial dysalbuminemic byperthyroxinemia may result in altered warfarin pharmacokinetics.


[PMID 9329347] A novel missense mutation in codon 218 of the albumin gene in a distinct phenotype of familial dysalbuminemic hyperthyroxinemia in a Japanese kindred.