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rs121918555

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918555(C;T)
Make rs121918555(T;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position59024379
GeneTUBB1
is asnp
is mentioned by
dbSNPrs121918555
ebirs121918555
HLIrs121918555
Exacrs121918555
Varsomers121918555
Maprs121918555
PheGenIrs121918555
hapmaprs121918555
1000 genomesrs121918555
hgdprs121918555
ensemblrs121918555
gopubmedrs121918555
geneviewrs121918555
scholarrs121918555
googlers121918555
pharmgkbrs121918555
gwascentralrs121918555
openSNPrs121918555
23andMers121918555
23andMe allrs121918555
SNP Nexus

SNPshotrs121918555
SNPdbers121918555
MSV3drs121918555
GWAS Ctlgrs121918555
GMAF0.0004591
Max Magnitude0
OMIM612901
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121918555(T;T)
Alt rs121918555(T;T)
Reference rs121918555(C;C)
Significance Pathogenic
Disease MACROTHROMBOCYTOPENIA
Variation info
Gene TUBB1
CLNDBN MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED
Reversed 0
HGVS NC_000020.10:g.57599434C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000453.2,