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rs75152012

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AT;AT) 0 common in clinvar
Make rs75152012(-;-)
Make rs75152012(-;AT)
ReferenceGRCh38 38.1/141
Chromosome4
Position73406719
GeneALB
is asnp
is mentioned by
dbSNPrs75152012
ebirs75152012
HLIrs75152012
Exacrs75152012
Varsomers75152012
Maprs75152012
PheGenIrs75152012
hapmaprs75152012
1000 genomesrs75152012
hgdprs75152012
ensemblrs75152012
gopubmedrs75152012
geneviewrs75152012
scholarrs75152012
googlers75152012
pharmgkbrs75152012
gwascentralrs75152012
openSNPrs75152012
23andMers75152012
23andMe allrs75152012
SNP Nexus

SNPshotrs75152012
SNPdbers75152012
MSV3drs75152012
GWAS Ctlgrs75152012
Max Magnitude0
ClinVar
Risk rs75152012(;)
Alt rs75152012(;)
Reference rs75152012(AT;AT)
Significance Untested
Disease Analbuminemia
Variation info
Gene ALB
CLNDBN Analbuminemia
Reversed 0
HGVS NC_000004.11:g.74272436_74272437delAT
CLNSRC ClinVar
CLNACC RCV000144403.1,


[PMID 12028999] Molecular diagnosis of analbuminemia: a novel mutation identified in two Amerindian and two Turkish families.

[PMID 16183048] Analbuminemia in a Slovak Romany (gypsy) family: case report and mutational analysis.

[PMID 17952464] A boy with congenital analbuminemia and steroid-sensitive idiopathic nephrotic syndrome: an experiment of nature.

[PMID 18602380] Analbuminemia in a Swedish male is caused by the Kayseri mutation (c228_229delAT).

[PMID 18791744] Congenital analbuminemia with acute glomerulonephritis: a diagnostic challenge.