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rs372277612

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs372277612(C;G)
Make rs372277612(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome3
Position46991644
GeneNBEAL2
is asnp
is mentioned by
dbSNPrs372277612
ebirs372277612
HLIrs372277612
Exacrs372277612
Varsomers372277612
Maprs372277612
PheGenIrs372277612
hapmaprs372277612
1000 genomesrs372277612
hgdprs372277612
ensemblrs372277612
gopubmedrs372277612
geneviewrs372277612
scholarrs372277612
googlers372277612
pharmgkbrs372277612
gwascentralrs372277612
openSNPrs372277612
23andMers372277612
23andMe allrs372277612
SNP Nexus

SNPshotrs372277612
SNPdbers372277612
MSV3drs372277612
GWAS Ctlgrs372277612
Max Magnitude0
ClinVar
Risk rs372277612(G;G)
Alt rs372277612(G;G)
Reference rs372277612(C;C)
Significance Pathogenic
Disease Gray platelet syndrome
Variation info
Gene NBEAL2
CLNDBN Gray platelet syndrome
Reversed 0
HGVS NC_000003.11:g.47033134C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000024113.3,