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rs104894487

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894487(A;A)
Make rs104894487(A;G)
ReferenceGRCh38 38.1/142
Chromosome15
Position43215191
GeneEPB42
is asnp
is mentioned by
dbSNPrs104894487
ebirs104894487
HLIrs104894487
Exacrs104894487
Varsomers104894487
Maprs104894487
PheGenIrs104894487
hapmaprs104894487
1000 genomesrs104894487
hgdprs104894487
ensemblrs104894487
gopubmedrs104894487
geneviewrs104894487
scholarrs104894487
googlers104894487
pharmgkbrs104894487
gwascentralrs104894487
openSNPrs104894487
23andMers104894487
23andMe allrs104894487
SNP Nexus

SNPshotrs104894487
SNPdbers104894487
MSV3drs104894487
GWAS Ctlgrs104894487
Merged fromRs28933988
GMAF0.0004591
Max Magnitude0
OMIM177070
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104894487(A;A)
Alt rs104894487(A;A)
Reference rs104894487(G;G)
Significance Pathogenic
Disease Spherocytosis type 5
Variation info
Gene EPB42
CLNDBN Spherocytosis type 5
Reversed 1
HGVS NC_000015.9:g.43507389C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000014138.26,