Have questions? Visit https://www.reddit.com/r/SNPedia

rs121909750

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121909750(A;G)
Make rs121909750(G;G)
ReferenceGRCh38 38.1/141
Chromosome22
Position19724181
GeneGP1BB
is asnp
is mentioned by
dbSNPrs121909750
ebirs121909750
HLIrs121909750
Exacrs121909750
Varsomers121909750
Maprs121909750
PheGenIrs121909750
hapmaprs121909750
1000 genomesrs121909750
hgdprs121909750
ensemblrs121909750
gopubmedrs121909750
geneviewrs121909750
scholarrs121909750
googlers121909750
pharmgkbrs121909750
gwascentralrs121909750
openSNPrs121909750
23andMers121909750
23andMe allrs121909750
SNP Nexus

SNPshotrs121909750
SNPdbers121909750
MSV3drs121909750
GWAS Ctlgrs121909750
Max Magnitude0
OMIM138720
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121909750(G,T;G,T)
Alt rs121909750(G,T;G,T)
Reference rs121909750(A;A)
Significance Pathogenic
Disease Macrothrombocytopenia
Variation info
Gene SEPT5-GP1BB GP1BB
CLNDBN Macrothrombocytopenia, familial, Bernard-Soulier type
Reversed 0
HGVS NC_000022.10:g.19711704A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000017413.26,