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rs121918647

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918647(C;G)
Make rs121918647(G;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position64767829
GeneSPTB
is asnp
is mentioned by
dbSNPrs121918647
ebirs121918647
HLIrs121918647
Exacrs121918647
Varsomers121918647
Maprs121918647
PheGenIrs121918647
hapmaprs121918647
1000 genomesrs121918647
hgdprs121918647
ensemblrs121918647
gopubmedrs121918647
geneviewrs121918647
scholarrs121918647
googlers121918647
pharmgkbrs121918647
gwascentralrs121918647
openSNPrs121918647
23andMers121918647
23andMe allrs121918647
SNP Nexus

SNPshotrs121918647
SNPdbers121918647
MSV3drs121918647
GWAS Ctlgrs121918647
Max Magnitude0
OMIM182870
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121918647(G;G)
Alt rs121918647(G;G)
Reference rs121918647(C;C)
Significance Pathogenic
Disease Hereditary pyropoikilocytosis Elliptocytosis 3
Variation info
Gene SPTB
CLNDBN Hereditary pyropoikilocytosis Elliptocytosis 3
Reversed 1
HGVS NC_000014.8:g.65234547G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000013686.17, RCV000013687.23,