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rs45495503

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs45495503(C;T)
Make rs45495503(T;T)
ReferenceGRCh38 38.1/142
Chromosome15
Position43206339
GeneEPB42
is asnp
is mentioned by
dbSNPrs45495503
dbSNP (classic)rs45495503
ClinGenrs45495503
ebirs45495503
HLIrs45495503
Exacrs45495503
Gnomadrs45495503
Varsomers45495503
LitVarrs45495503
Maprs45495503
PheGenIrs45495503
Biobankrs45495503
1000 genomesrs45495503
hgdprs45495503
ensemblrs45495503
geneviewrs45495503
scholarrs45495503
googlers45495503
pharmgkbrs45495503
gwascentralrs45495503
openSNPrs45495503
23andMers45495503
SNPshotrs45495503
SNPdbers45495503
MSV3drs45495503
GWAS Ctlgrs45495503
Max Magnitude0
ClinVar
Risk rs45495503(T;T)
Alt rs45495503(T;T)
Reference Rs45495503(C;C)
Significance Pathogenic
Disease Spherocytosis type 5
Variation info
Gene EPB42
CLNDBN Spherocytosis type 5
Reversed 0
HGVS NC_000015.9:g.43498537C>T
CLNSRC ClinVar
CLNACC RCV000258852.1,