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rs266257354

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs266257354(-;-)
Make rs266257354(-;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position43216289
GeneEPB42
is asnp
is mentioned by
dbSNPrs266257354
ebirs266257354
HLIrs266257354
Exacrs266257354
Varsomers266257354
Maprs266257354
PheGenIrs266257354
hapmaprs266257354
1000 genomesrs266257354
hgdprs266257354
ensemblrs266257354
gopubmedrs266257354
geneviewrs266257354
scholarrs266257354
googlers266257354
pharmgkbrs266257354
gwascentralrs266257354
openSNPrs266257354
23andMers266257354
23andMe allrs266257354
SNP Nexus

SNPshotrs266257354
SNPdbers266257354
MSV3drs266257354
GWAS Ctlgrs266257354
Max Magnitude0
ClinVar
Risk rs266257354(;)
Alt rs266257354(;)
Reference rs266257354(G;G)
Significance Pathogenic
Disease Spherocytosis type 5
Variation info
Gene EPB42
CLNDBN Spherocytosis type 5
Reversed 1
HGVS NC_000015.9:g.43508487delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000033190.26,


[PMID 7803799] A deletional frameshift mutation in protein 4.2 gene (allele 4.2 Lisboa) associated with hereditary hemolytic anemia.