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rs515726213

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs515726213(-;-)
Make rs515726213(-;C)
ReferenceGRCh38 38.1/142
Chromosome15
Position43208748
GeneEPB42
is asnp
is mentioned by
dbSNPrs515726213
dbSNP (classic)rs515726213
ClinGenrs515726213
ebirs515726213
HLIrs515726213
Exacrs515726213
Gnomadrs515726213
Varsomers515726213
LitVarrs515726213
Maprs515726213
PheGenIrs515726213
Biobankrs515726213
1000 genomesrs515726213
hgdprs515726213
ensemblrs515726213
geneviewrs515726213
scholarrs515726213
googlers515726213
pharmgkbrs515726213
gwascentralrs515726213
openSNPrs515726213
23andMers515726213
SNPshotrs515726213
SNPdbers515726213
MSV3drs515726213
GWAS Ctlgrs515726213
Max Magnitude0
ClinVar
Risk rs515726213(-;-)
Alt rs515726213(-;-)
Reference Rs515726213(C;C)
Significance Pathogenic
Disease Spherocytosis type 5
Variation info
Gene EPB42
CLNDBN Spherocytosis type 5
Reversed 0
HGVS NC_000015.9:g.43500946delC
CLNSRC ClinVar
CLNACC RCV000119053.2,