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rs121908061

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908061(A;A)
Make rs121908061(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position4933681
GeneGP1BA
is asnp
is mentioned by
dbSNPrs121908061
ebirs121908061
HLIrs121908061
Exacrs121908061
Varsomers121908061
Maprs121908061
PheGenIrs121908061
hapmaprs121908061
1000 genomesrs121908061
hgdprs121908061
ensemblrs121908061
gopubmedrs121908061
geneviewrs121908061
scholarrs121908061
googlers121908061
pharmgkbrs121908061
gwascentralrs121908061
openSNPrs121908061
23andMers121908061
23andMe allrs121908061
SNP Nexus

SNPshotrs121908061
SNPdbers121908061
MSV3drs121908061
GWAS Ctlgrs121908061
Max Magnitude0
OMIM606672
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121908061(A;A)
Alt rs121908061(A;A)
Reference rs121908061(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.4836976G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004367.2,