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rs28933377

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs28933377(C;C)
Make rs28933377(C;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position129061906
GeneGP9
is asnp
is mentioned by
dbSNPrs28933377
ebirs28933377
HLIrs28933377
Exacrs28933377
Varsomers28933377
Maprs28933377
PheGenIrs28933377
hapmaprs28933377
1000 genomesrs28933377
hgdprs28933377
ensemblrs28933377
gopubmedrs28933377
geneviewrs28933377
scholarrs28933377
googlers28933377
pharmgkbrs28933377
gwascentralrs28933377
openSNPrs28933377
23andMers28933377
23andMe allrs28933377
SNP Nexus

SNPshotrs28933377
SNPdbers28933377
MSV3drs28933377
GWAS Ctlgrs28933377
Max Magnitude0
OMIM173515
DescBERNARD-SOULIER SYNDROME, TYPE C
Variant0004
Relatedalso
Neighborrs28933378
Distance97


ClinVar
Risk rs28933377(C;C)
Alt rs28933377(C;C)
Reference rs28933377(T;T)
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.128780749T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000014487.18,