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rs121908065

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908065(C;T)
Make rs121908065(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position4933119
GeneGP1BA
is asnp
is mentioned by
dbSNPrs121908065
ebirs121908065
HLIrs121908065
Exacrs121908065
Varsomers121908065
Maprs121908065
PheGenIrs121908065
hapmaprs121908065
1000 genomesrs121908065
hgdprs121908065
ensemblrs121908065
gopubmedrs121908065
geneviewrs121908065
scholarrs121908065
googlers121908065
pharmgkbrs121908065
gwascentralrs121908065
openSNPrs121908065
23andMers121908065
23andMe allrs121908065
SNP Nexus

SNPshotrs121908065
SNPdbers121908065
MSV3drs121908065
GWAS Ctlgrs121908065
Max Magnitude0
OMIM606672
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121908065(T;T)
Alt rs121908065(T;T)
Reference rs121908065(C;C)
Significance Pathogenic
Disease Bernard-Soulier syndrome Bernard-Soulier syndrome
Variation info
Gene GP1BA
CLNDBN Bernard-Soulier syndrome, type A1 Bernard-Soulier syndrome, type A2, autosomal dominant
Reversed 0
HGVS NC_000017.10:g.4836414C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004373.2, RCV000023565.2,