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rs863223302

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs863223302(G;T)
Make rs863223302(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome14
Position64767300
GeneSPTB
is asnp
is mentioned by
dbSNPrs863223302
dbSNP (classic)rs863223302
ClinGenrs863223302
ebirs863223302
HLIrs863223302
Exacrs863223302
Gnomadrs863223302
Varsomers863223302
LitVarrs863223302
Maprs863223302
PheGenIrs863223302
Biobankrs863223302
1000 genomesrs863223302
hgdprs863223302
ensemblrs863223302
geneviewrs863223302
scholarrs863223302
googlers863223302
pharmgkbrs863223302
gwascentralrs863223302
openSNPrs863223302
23andMers863223302
SNPshotrs863223302
SNPdbers863223302
MSV3drs863223302
GWAS Ctlgrs863223302
Max Magnitude0
ClinVar
Risk rs863223302(T;T)
Alt rs863223302(T;T)
Reference Rs863223302(G;G)
Significance Pathogenic
Disease Elliptocytosis 3
Variation info
Gene SPTB
CLNDBN Elliptocytosis 3
Reversed 1
HGVS NC_000014.8:g.65234018C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000013680.26,