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rs587783648

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783648(C;T)
Make rs587783648(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome22
Position19724183
GeneGP1BB, SEPT5-GP1BB
is asnp
is mentioned by
dbSNPrs587783648
ebirs587783648
HLIrs587783648
Exacrs587783648
Varsomers587783648
Maprs587783648
PheGenIrs587783648
hapmaprs587783648
1000 genomesrs587783648
hgdprs587783648
ensemblrs587783648
gopubmedrs587783648
geneviewrs587783648
scholarrs587783648
googlers587783648
pharmgkbrs587783648
gwascentralrs587783648
openSNPrs587783648
23andMers587783648
23andMe allrs587783648
SNP Nexus

SNPshotrs587783648
SNPdbers587783648
MSV3drs587783648
GWAS Ctlgrs587783648
Max Magnitude0
ClinVar
Risk rs587783648(T;T)
Alt rs587783648(T;T)
Reference rs587783648(C;C)
Significance Probable-Pathogenic
Disease Bernard-Soulier syndrome
Variation info
Gene SEPT5-GP1BB GP1BB
CLNDBN Bernard-Soulier syndrome, type B
Reversed 0
HGVS NC_000022.10:g.19711706C>T
CLNSRC
CLNACC RCV000146029.1,