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rs74315451

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs74315451(C;C)
Make rs74315451(C;G)
ReferenceGRCh38 38.1/141
Chromosome21
Position34880665
GeneLOC101928240, RUNX1
is asnp
is mentioned by
dbSNPrs74315451
ebirs74315451
HLIrs74315451
Exacrs74315451
Varsomers74315451
Maprs74315451
PheGenIrs74315451
hapmaprs74315451
1000 genomesrs74315451
hgdprs74315451
ensemblrs74315451
gopubmedrs74315451
geneviewrs74315451
scholarrs74315451
googlers74315451
pharmgkbrs74315451
gwascentralrs74315451
openSNPrs74315451
23andMers74315451
23andMe allrs74315451
SNP Nexus

SNPshotrs74315451
SNPdbers74315451
MSV3drs74315451
GWAS Ctlgrs74315451
Max Magnitude0
OMIM151385
Desc
Variant0006
Relatedalso
ClinVar
Risk rs74315451(C;C)
Alt rs74315451(C;C)
Reference rs74315451(G;G)
Significance Pathogenic
Disease Familial platelet disorder with associated myeloid malignancy
Variation info
Gene RUNX1
CLNDBN Familial platelet disorder with associated myeloid malignancy
Reversed 1
HGVS NC_000021.8:g.36252962C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000015554.23,