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rs387907115

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387907115(C;T)
Make rs387907115(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position47004976
GeneNBEAL2
is asnp
is mentioned by
dbSNPrs387907115
ebirs387907115
HLIrs387907115
Exacrs387907115
Varsomers387907115
Maprs387907115
PheGenIrs387907115
hapmaprs387907115
1000 genomesrs387907115
hgdprs387907115
ensemblrs387907115
gopubmedrs387907115
geneviewrs387907115
scholarrs387907115
googlers387907115
pharmgkbrs387907115
gwascentralrs387907115
openSNPrs387907115
23andMers387907115
23andMe allrs387907115
SNP Nexus

SNPshotrs387907115
SNPdbers387907115
MSV3drs387907115
GWAS Ctlgrs387907115
Max Magnitude0
ClinVar
Risk rs387907115(T;T)
Alt rs387907115(T;T)
Reference rs387907115(C;C)
Significance Pathogenic
Disease Gray platelet syndrome
Variation info
Gene NBEAL2
CLNDBN Gray platelet syndrome
Reversed 0
HGVS NC_000003.11:g.47046466C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000024116.3,