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rs121909751

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121909751(C;C)
Make rs121909751(C;G)
ReferenceGRCh38 38.1/141
Chromosome22
Position19724240
GeneGP1BB, NACC2
is asnp
is mentioned by
dbSNPrs121909751
ebirs121909751
HLIrs121909751
Exacrs121909751
Varsomers121909751
Maprs121909751
PheGenIrs121909751
hapmaprs121909751
1000 genomesrs121909751
hgdprs121909751
ensemblrs121909751
gopubmedrs121909751
geneviewrs121909751
scholarrs121909751
googlers121909751
pharmgkbrs121909751
gwascentralrs121909751
openSNPrs121909751
23andMers121909751
23andMe allrs121909751
SNP Nexus

SNPshotrs121909751
SNPdbers121909751
MSV3drs121909751
GWAS Ctlgrs121909751
Max Magnitude0
ClinVar
Risk rs121909751(C;C)
Alt rs121909751(C;C)
Reference rs121909751(G;G)
Significance Pathogenic
Disease Macrothrombocytopenia
Variation info
Gene SEPT5-GP1BB GP1BB
CLNDBN Macrothrombocytopenia, familial, Bernard-Soulier type
Reversed 0
HGVS NC_000022.10:g.19711763G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000017414.28,