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rs5030764

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs5030764(A;G)
Make rs5030764(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position129061921
GeneGP9
is asnp
is mentioned by
dbSNPrs5030764
ebirs5030764
HLIrs5030764
Exacrs5030764
Varsomers5030764
Maprs5030764
PheGenIrs5030764
hapmaprs5030764
1000 genomesrs5030764
hgdprs5030764
ensemblrs5030764
gopubmedrs5030764
geneviewrs5030764
scholarrs5030764
googlers5030764
pharmgkbrs5030764
gwascentralrs5030764
openSNPrs5030764
23andMers5030764
23andMe allrs5030764
SNP Nexus

SNPshotrs5030764
SNPdbers5030764
MSV3drs5030764
GWAS Ctlgrs5030764
Max Magnitude0
OMIM173515
Desc
Variant0001
Relatedalso


ClinVar
Risk rs5030764(G;G)
Alt rs5030764(G;G)
Reference rs5030764(A;A)
Significance Pathogenic
Disease Bernard-Soulier syndrome type C
Variation info
Gene GP9
CLNDBN Bernard-Soulier syndrome type C
Reversed 0
HGVS NC_000003.11:g.128780764A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000014484.24,