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rs121908063

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908063(C;T)
Make rs121908063(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position4932821
GeneGP1BA
is asnp
is mentioned by
dbSNPrs121908063
ebirs121908063
HLIrs121908063
Exacrs121908063
Varsomers121908063
Maprs121908063
PheGenIrs121908063
hapmaprs121908063
1000 genomesrs121908063
hgdprs121908063
ensemblrs121908063
gopubmedrs121908063
geneviewrs121908063
scholarrs121908063
googlers121908063
pharmgkbrs121908063
gwascentralrs121908063
openSNPrs121908063
23andMers121908063
23andMe allrs121908063
SNP Nexus

SNPshotrs121908063
SNPdbers121908063
MSV3drs121908063
GWAS Ctlgrs121908063
Max Magnitude0
OMIM606672
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121908063(T;T)
Alt rs121908063(T;T)
Reference rs121908063(C;C)
Significance Pathogenic
Disease Bernard-Soulier syndrome
Variation info
Gene GP1BA
CLNDBN Bernard-Soulier syndrome, type A2, autosomal dominant
Reversed 0
HGVS NC_000017.10:g.4836116C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004371.2,