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rs121918651

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121918651(A;G)
Make rs121918651(G;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position64823094
GeneSPTB
is asnp
is mentioned by
dbSNPrs121918651
dbSNP (classic)rs121918651
ClinGenrs121918651
ebirs121918651
HLIrs121918651
Exacrs121918651
Gnomadrs121918651
Varsomers121918651
LitVarrs121918651
Maprs121918651
PheGenIrs121918651
Biobankrs121918651
1000 genomesrs121918651
hgdprs121918651
ensemblrs121918651
geneviewrs121918651
scholarrs121918651
googlers121918651
pharmgkbrs121918651
gwascentralrs121918651
openSNPrs121918651
23andMers121918651
SNPshotrs121918651
SNPdbers121918651
MSV3drs121918651
GWAS Ctlgrs121918651
Merged fromRs28934006
Max Magnitude0
OMIM182870
Desc
Variant0013
Relatedalso
ClinVar
Risk rs121918651(G;G)
Alt rs121918651(G;G)
Reference Rs121918651(A;A)
Significance Pathogenic
Disease Spherocytosis type 2
Variation info
Gene SPTB
CLNDBN Spherocytosis type 2
Reversed 1
HGVS NC_000014.8:g.65289812T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000013693.23,