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rs863223304

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs863223304(-;-)
Make rs863223304(-;C)
ReferenceGRCh38.p2 38.2/146
Chromosome14
Position64793751
GeneSPTB
is asnp
is mentioned by
dbSNPrs863223304
dbSNP (classic)rs863223304
ClinGenrs863223304
ebirs863223304
HLIrs863223304
Exacrs863223304
Gnomadrs863223304
Varsomers863223304
LitVarrs863223304
Maprs863223304
PheGenIrs863223304
Biobankrs863223304
1000 genomesrs863223304
hgdprs863223304
ensemblrs863223304
geneviewrs863223304
scholarrs863223304
googlers863223304
pharmgkbrs863223304
gwascentralrs863223304
openSNPrs863223304
23andMers863223304
SNPshotrs863223304
SNPdbers863223304
MSV3drs863223304
GWAS Ctlgrs863223304
Max Magnitude0
ClinVar
Risk rs863223304(-;-)
Alt rs863223304(-;-)
Reference Rs863223304(C;C)
Significance Pathogenic
Disease Spherocytosis type 2
Variation info
Gene SPTB
CLNDBN Spherocytosis type 2
Reversed 1
HGVS NC_000014.8:g.65260469delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000013694.24,