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rs121918648

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121918648(C;C)
Make rs121918648(C;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position64767827
GeneSPTB
is asnp
is mentioned by
dbSNPrs121918648
ebirs121918648
HLIrs121918648
Exacrs121918648
Varsomers121918648
Maprs121918648
PheGenIrs121918648
hapmaprs121918648
1000 genomesrs121918648
hgdprs121918648
ensemblrs121918648
gopubmedrs121918648
geneviewrs121918648
scholarrs121918648
googlers121918648
pharmgkbrs121918648
gwascentralrs121918648
openSNPrs121918648
23andMers121918648
23andMe allrs121918648
SNP Nexus

SNPshotrs121918648
SNPdbers121918648
MSV3drs121918648
GWAS Ctlgrs121918648
Max Magnitude0
OMIM182870
Desc
Variant0009
Relatedalso
ClinVar
Risk rs121918648(C;C)
Alt rs121918648(C;C)
Reference rs121918648(T;T)
Significance Pathogenic
Disease Elliptocytosis 3
Variation info
Gene SPTB
CLNDBN Elliptocytosis 3
Reversed 1
HGVS NC_000014.8:g.65234545A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000013688.24,