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rs794726682

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794726682(A;A)
Make rs794726682(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome3
Position46995558
GeneNBEAL2
is asnp
is mentioned by
dbSNPrs794726682
dbSNP (classic)rs794726682
ClinGenrs794726682
ebirs794726682
HLIrs794726682
Exacrs794726682
Gnomadrs794726682
Varsomers794726682
LitVarrs794726682
Maprs794726682
PheGenIrs794726682
Biobankrs794726682
1000 genomesrs794726682
hgdprs794726682
ensemblrs794726682
geneviewrs794726682
scholarrs794726682
googlers794726682
pharmgkbrs794726682
gwascentralrs794726682
openSNPrs794726682
23andMers794726682
SNPshotrs794726682
SNPdbers794726682
MSV3drs794726682
GWAS Ctlgrs794726682
Max Magnitude0
ClinVar
Risk rs794726682(A;A)
Alt rs794726682(A;A)
Reference Rs794726682(G;G)
Significance Pathogenic
Disease Gray platelet syndrome
Variation info
Gene NBEAL2
CLNDBN Gray platelet syndrome
Reversed 0
HGVS NC_000003.11:g.47037048G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000024117.4,