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rs387907112

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387907112(C;T)
Make rs387907112(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position46997310
GeneNBEAL2
is asnp
is mentioned by
dbSNPrs387907112
ebirs387907112
HLIrs387907112
Exacrs387907112
Varsomers387907112
Maprs387907112
PheGenIrs387907112
hapmaprs387907112
1000 genomesrs387907112
hgdprs387907112
ensemblrs387907112
gopubmedrs387907112
geneviewrs387907112
scholarrs387907112
googlers387907112
pharmgkbrs387907112
gwascentralrs387907112
openSNPrs387907112
23andMers387907112
23andMe allrs387907112
SNP Nexus

SNPshotrs387907112
SNPdbers387907112
MSV3drs387907112
GWAS Ctlgrs387907112
Max Magnitude0
ClinVar
Risk rs387907112(T;T)
Alt rs387907112(T;T)
Reference rs387907112(C;C)
Significance Pathogenic
Disease Gray platelet syndrome
Variation info
Gene NBEAL2
CLNDBN Gray platelet syndrome
Reversed 0
HGVS NC_000003.11:g.47038800C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000024112.2,