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rs387907114

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs387907114(A;T)
Make rs387907114(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position46995743
GeneNBEAL2
is asnp
is mentioned by
dbSNPrs387907114
ebirs387907114
HLIrs387907114
Exacrs387907114
Varsomers387907114
Maprs387907114
PheGenIrs387907114
hapmaprs387907114
1000 genomesrs387907114
hgdprs387907114
ensemblrs387907114
gopubmedrs387907114
geneviewrs387907114
scholarrs387907114
googlers387907114
pharmgkbrs387907114
gwascentralrs387907114
openSNPrs387907114
23andMers387907114
23andMe allrs387907114
SNP Nexus

SNPshotrs387907114
SNPdbers387907114
MSV3drs387907114
GWAS Ctlgrs387907114
Max Magnitude0
ClinVar
Risk rs387907114(T;T)
Alt rs387907114(T;T)
Reference rs387907114(A;A)
Significance Pathogenic
Disease Gray platelet syndrome
Variation info
Gene NBEAL2
CLNDBN Gray platelet syndrome
Reversed 0
HGVS NC_000003.11:g.47037233A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000024115.3,