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rs121909752

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121909752(A;A)
Make rs121909752(A;G)
ReferenceGRCh38 38.1/141
Chromosome22
Position19723980
GeneGP1BB
is asnp
is mentioned by
dbSNPrs121909752
ebirs121909752
HLIrs121909752
Exacrs121909752
Varsomers121909752
Maprs121909752
PheGenIrs121909752
hapmaprs121909752
1000 genomesrs121909752
hgdprs121909752
ensemblrs121909752
gopubmedrs121909752
geneviewrs121909752
scholarrs121909752
googlers121909752
pharmgkbrs121909752
gwascentralrs121909752
openSNPrs121909752
23andMers121909752
23andMe allrs121909752
SNP Nexus

SNPshotrs121909752
SNPdbers121909752
MSV3drs121909752
GWAS Ctlgrs121909752
Max Magnitude0
OMIM138720
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121909752(A;A)
Alt rs121909752(A;A)
Reference rs121909752(G;G)
Significance Pathogenic
Disease Bernard-Soulier syndrome
Variation info
Gene SEPT5-GP1BB GP1BB
CLNDBN Bernard-Soulier syndrome, type B
Reversed 0
HGVS NC_000022.10:g.19711503G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000017415.26,