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rs267606849

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267606849(A;A)
Make rs267606849(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position4934224
GeneGP1BA
is asnp
is mentioned by
dbSNPrs267606849
ebirs267606849
HLIrs267606849
Exacrs267606849
Varsomers267606849
Maprs267606849
PheGenIrs267606849
hapmaprs267606849
1000 genomesrs267606849
hgdprs267606849
ensemblrs267606849
gopubmedrs267606849
geneviewrs267606849
scholarrs267606849
googlers267606849
pharmgkbrs267606849
gwascentralrs267606849
openSNPrs267606849
23andMers267606849
23andMe allrs267606849
SNP Nexus

SNPshotrs267606849
SNPdbers267606849
MSV3drs267606849
GWAS Ctlgrs267606849
Max Magnitude0
ClinVar
Risk rs267606849(A;A)
Alt rs267606849(A;A)
Reference rs267606849(G;G)
Significance Pathogenic
Disease Bernard-Soulier syndrome
Variation info
Gene GP1BA
CLNDBN Bernard-Soulier syndrome, type A1
Reversed 0
HGVS NC_000017.10:g.4837519G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004374.2,