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rs121434564

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121434564(G;G)
Make rs121434564(G;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position28993490
GeneEPB41
is asnp
is mentioned by
dbSNPrs121434564
ebirs121434564
HLIrs121434564
Exacrs121434564
Varsomers121434564
Maprs121434564
PheGenIrs121434564
hapmaprs121434564
1000 genomesrs121434564
hgdprs121434564
ensemblrs121434564
gopubmedrs121434564
geneviewrs121434564
scholarrs121434564
googlers121434564
pharmgkbrs121434564
gwascentralrs121434564
openSNPrs121434564
23andMers121434564
23andMe allrs121434564
SNP Nexus

SNPshotrs121434564
SNPdbers121434564
MSV3drs121434564
GWAS Ctlgrs121434564
Max Magnitude0
OMIM130500
Desc
Variant0005
Relatedalso
OMIM130500
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121434564(C,G;C,G)
Alt rs121434564(C,G;C,G)
Reference rs121434564(T;T)
Significance Pathogenic
Disease Elliptocytosis 1
Variation info
Gene EPB41
CLNDBN Elliptocytosis 1
Reversed 0
HGVS NC_000001.10:g.29320002T>C; NC_000001.10:g.29320002T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000018198.28, RCV000018196.28,