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rs115998465

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs115998465(C;G)
Make rs115998465(G;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position43203237
GeneEPB42
is asnp
is mentioned by
dbSNPrs115998465
ebirs115998465
HLIrs115998465
Exacrs115998465
Varsomers115998465
Maprs115998465
PheGenIrs115998465
hapmaprs115998465
1000 genomesrs115998465
hgdprs115998465
ensemblrs115998465
gopubmedrs115998465
geneviewrs115998465
scholarrs115998465
googlers115998465
pharmgkbrs115998465
gwascentralrs115998465
openSNPrs115998465
23andMers115998465
23andMe allrs115998465
SNP Nexus

SNPshotrs115998465
SNPdbers115998465
MSV3drs115998465
GWAS Ctlgrs115998465
GMAF0.0004591
Max Magnitude0
ClinVar
Risk rs115998465(A,G;A,G)
Alt rs115998465(A,G;A,G)
Reference rs115998465(C;C)
Significance Pathogenic
Disease Spherocytosis type 5
Variation info
Gene EPB42
CLNDBN Spherocytosis type 5
Reversed 0
HGVS NC_000015.9:g.43495435C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000014142.24,


[PMID 12176912] Absence of CD47 in protein 4.2-deficient hereditary spherocytosis in man: an interaction between the Rh complex and the band 3 complex.