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rs121918650

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918650(C;C)
Make rs121918650(C;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position64767691
GeneSPTB
is asnp
is mentioned by
dbSNPrs121918650
ebirs121918650
HLIrs121918650
Exacrs121918650
Varsomers121918650
Maprs121918650
PheGenIrs121918650
hapmaprs121918650
1000 genomesrs121918650
hgdprs121918650
ensemblrs121918650
gopubmedrs121918650
geneviewrs121918650
scholarrs121918650
googlers121918650
pharmgkbrs121918650
gwascentralrs121918650
openSNPrs121918650
23andMers121918650
23andMe allrs121918650
SNP Nexus

SNPshotrs121918650
SNPdbers121918650
MSV3drs121918650
GWAS Ctlgrs121918650
Max Magnitude0
OMIM182870
Desc
Variant0012
Relatedalso
ClinVar
Risk rs121918650(A,C;A,C)
Alt rs121918650(A,C;A,C)
Reference rs121918650(G;G)
Significance Pathogenic
Disease Elliptocytosis 3
Variation info
Gene SPTB
CLNDBN Elliptocytosis 3
Reversed 1
HGVS NC_000014.8:g.65234409C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000013692.17,