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rs121912499

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912499(A;A)
Make rs121912499(A;C)
ReferenceGRCh38 38.1/141
Chromosome21
Position34799407
GeneRUNX1
is asnp
is mentioned by
dbSNPrs121912499
ebirs121912499
HLIrs121912499
Exacrs121912499
Varsomers121912499
Maprs121912499
PheGenIrs121912499
hapmaprs121912499
1000 genomesrs121912499
hgdprs121912499
ensemblrs121912499
gopubmedrs121912499
geneviewrs121912499
scholarrs121912499
googlers121912499
pharmgkbrs121912499
gwascentralrs121912499
openSNPrs121912499
23andMers121912499
23andMe allrs121912499
SNP Nexus

SNPshotrs121912499
SNPdbers121912499
MSV3drs121912499
GWAS Ctlgrs121912499
Max Magnitude0
OMIM151385
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121912499(A;A)
Alt rs121912499(A;A)
Reference rs121912499(C;C)
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.36171704G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000015553.23,