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rs387907113

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs387907113(C;C)
Make rs387907113(C;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position46993986
GeneNBEAL2
is asnp
is mentioned by
dbSNPrs387907113
ebirs387907113
HLIrs387907113
Exacrs387907113
Varsomers387907113
Maprs387907113
PheGenIrs387907113
hapmaprs387907113
1000 genomesrs387907113
hgdprs387907113
ensemblrs387907113
gopubmedrs387907113
geneviewrs387907113
scholarrs387907113
googlers387907113
pharmgkbrs387907113
gwascentralrs387907113
openSNPrs387907113
23andMers387907113
23andMe allrs387907113
SNP Nexus

SNPshotrs387907113
SNPdbers387907113
MSV3drs387907113
GWAS Ctlgrs387907113
Max Magnitude0
ClinVar
Risk rs387907113(C;C)
Alt rs387907113(C;C)
Reference rs387907113(T;T)
Significance Pathogenic
Disease Gray platelet syndrome
Variation info
Gene NBEAL2
CLNDBN Gray platelet syndrome
Reversed 0
HGVS NC_000003.11:g.47035476T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000024114.3,