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rs121912498

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121912498(A;G)
Make rs121912498(G;G)
ReferenceGRCh38 38.1/141
Chromosome21
Position34886866
GeneRUNX1
is asnp
is mentioned by
dbSNPrs121912498
ebirs121912498
HLIrs121912498
Exacrs121912498
Varsomers121912498
Maprs121912498
PheGenIrs121912498
hapmaprs121912498
1000 genomesrs121912498
hgdprs121912498
ensemblrs121912498
gopubmedrs121912498
geneviewrs121912498
scholarrs121912498
googlers121912498
pharmgkbrs121912498
gwascentralrs121912498
openSNPrs121912498
23andMers121912498
23andMe allrs121912498
SNP Nexus

SNPshotrs121912498
SNPdbers121912498
MSV3drs121912498
GWAS Ctlgrs121912498
Max Magnitude0
OMIM151385
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121912498(G;G)
Alt rs121912498(G;G)
Reference rs121912498(A;A)
Significance Pathogenic
Disease Familial platelet disorder with associated myeloid malignancy
Variation info
Gene RUNX1 LOC101928210
CLNDBN Familial platelet disorder with associated myeloid malignancy
Reversed 1
HGVS NC_000021.8:g.36259163T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000015551.25,