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rs28933378

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs28933378(C;C)
Make rs28933378(C;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position129061809
GeneGP9
is asnp
is mentioned by
dbSNPrs28933378
ebirs28933378
HLIrs28933378
Exacrs28933378
Varsomers28933378
Maprs28933378
PheGenIrs28933378
hapmaprs28933378
1000 genomesrs28933378
hgdprs28933378
ensemblrs28933378
gopubmedrs28933378
geneviewrs28933378
scholarrs28933378
googlers28933378
pharmgkbrs28933378
gwascentralrs28933378
openSNPrs28933378
23andMers28933378
23andMe allrs28933378
SNP Nexus

SNPshotrs28933378
SNPdbers28933378
MSV3drs28933378
GWAS Ctlgrs28933378
Max Magnitude0
OMIM173515
DescBERNARD-SOULIER SYNDROME, TYPE C
Variant0005
Relatedalso
Neighborrs28933377
Distance97


ClinVar
Risk rs28933378(C;C)
Alt rs28933378(C;C)
Reference rs28933378(T;T)
Significance Pathogenic
Disease Bernard-Soulier syndrome type C Bernard Soulier syndrome
Variation info
Gene GP9
CLNDBN Bernard-Soulier syndrome type C Bernard Soulier syndrome
Reversed 0
HGVS NC_000003.11:g.128780652T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000014488.25, RCV000177000.1,