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rs143682977

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs143682977(C;G)
Make rs143682977(G;G)
ReferenceGRCh38 38.1/142
Chromosome15
Position43211532
GeneEPB42
is asnp
is mentioned by
dbSNPrs143682977
ebirs143682977
HLIrs143682977
Exacrs143682977
Varsomers143682977
Maprs143682977
PheGenIrs143682977
hapmaprs143682977
1000 genomesrs143682977
hgdprs143682977
ensemblrs143682977
gopubmedrs143682977
geneviewrs143682977
scholarrs143682977
googlers143682977
pharmgkbrs143682977
gwascentralrs143682977
openSNPrs143682977
23andMers143682977
23andMe allrs143682977
SNP Nexus

SNPshotrs143682977
SNPdbers143682977
MSV3drs143682977
GWAS Ctlgrs143682977
Max Magnitude0
ClinVar
Risk rs143682977(A,G;A,G)
Alt rs143682977(A,G;A,G)
Reference rs143682977(C;C)
Significance Pathogenic
Disease Spherocytosis type 5
Variation info
Gene EPB42
CLNDBN Spherocytosis type 5
Reversed 0
HGVS NC_000015.9:g.43503730C>A
CLNSRC ClinVar
CLNACC RCV000119050.2,