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rs515726211

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs515726211(A;A)
Make rs515726211(A;G)
ReferenceGRCh38 38.1/142
Chromosome15
Position43209276
GeneEPB42
is asnp
is mentioned by
dbSNPrs515726211
dbSNP (classic)rs515726211
ClinGenrs515726211
ebirs515726211
HLIrs515726211
Exacrs515726211
Gnomadrs515726211
Varsomers515726211
LitVarrs515726211
Maprs515726211
PheGenIrs515726211
Biobankrs515726211
1000 genomesrs515726211
hgdprs515726211
ensemblrs515726211
geneviewrs515726211
scholarrs515726211
googlers515726211
pharmgkbrs515726211
gwascentralrs515726211
openSNPrs515726211
23andMers515726211
SNPshotrs515726211
SNPdbers515726211
MSV3drs515726211
GWAS Ctlgrs515726211
Max Magnitude0
ClinVar
Risk rs515726211(A;A)
Alt rs515726211(A;A)
Reference Rs515726211(G;G)
Significance Pathogenic
Disease Spherocytosis type 5
Variation info
Gene EPB42
CLNDBN Spherocytosis type 5
Reversed 0
HGVS NC_000015.9:g.43501474G>A
CLNSRC ClinVar
CLNACC RCV000119051.2,