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rs121917734

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121917734(A;A)
Make rs121917734(A;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position43208769
GeneEPB42
is asnp
is mentioned by
dbSNPrs121917734
ebirs121917734
HLIrs121917734
Exacrs121917734
Varsomers121917734
Maprs121917734
PheGenIrs121917734
hapmaprs121917734
1000 genomesrs121917734
hgdprs121917734
ensemblrs121917734
gopubmedrs121917734
geneviewrs121917734
scholarrs121917734
googlers121917734
pharmgkbrs121917734
gwascentralrs121917734
openSNPrs121917734
23andMers121917734
23andMe allrs121917734
SNP Nexus

SNPshotrs121917734
SNPdbers121917734
MSV3drs121917734
GWAS Ctlgrs121917734
Max Magnitude0
OMIM177070
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121917734(A;A)
Alt rs121917734(A;A)
Reference rs121917734(G;G)
Significance Pathogenic
Disease Spherocytosis type 5
Variation info
Gene EPB42
CLNDBN Spherocytosis type 5
Reversed 1
HGVS NC_000015.9:g.43500967C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000014140.19,