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rs121918645

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918645(C;C)
Make rs121918645(C;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position64767725
GeneSPTB
is asnp
is mentioned by
dbSNPrs121918645
dbSNP (classic)rs121918645
ClinGenrs121918645
ebirs121918645
HLIrs121918645
Exacrs121918645
Gnomadrs121918645
Varsomers121918645
LitVarrs121918645
Maprs121918645
PheGenIrs121918645
Biobankrs121918645
1000 genomesrs121918645
hgdprs121918645
ensemblrs121918645
geneviewrs121918645
scholarrs121918645
googlers121918645
pharmgkbrs121918645
gwascentralrs121918645
openSNPrs121918645
23andMers121918645
SNPshotrs121918645
SNPdbers121918645
MSV3drs121918645
GWAS Ctlgrs121918645
Max Magnitude0
OMIM182870
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121918645(C;C)
Alt rs121918645(C;C)
Reference Rs121918645(G;G)
Significance Pathogenic
Disease Elliptocytosis 3
Variation info
Gene SPTB
CLNDBN Elliptocytosis 3
Reversed 1
HGVS NC_000014.8:g.65234443C>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000013679.18,