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rs1060502579

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060502579(C;C)
Make rs1060502579(C;G)
ReferenceGRCh38.p7 38.3/150
Chromosome21
Position34886842
GeneRUNX1
is asnp
is mentioned by
dbSNPrs1060502579
dbSNP (classic)rs1060502579
ClinGenrs1060502579
ebirs1060502579
HLIrs1060502579
Exacrs1060502579
Gnomadrs1060502579
Varsomers1060502579
LitVarrs1060502579
Maprs1060502579
PheGenIrs1060502579
Biobankrs1060502579
1000 genomesrs1060502579
hgdprs1060502579
ensemblrs1060502579
geneviewrs1060502579
scholarrs1060502579
googlers1060502579
pharmgkbrs1060502579
gwascentralrs1060502579
openSNPrs1060502579
23andMers1060502579
SNPshotrs1060502579
SNPdbers1060502579
MSV3drs1060502579
GWAS Ctlgrs1060502579
Max Magnitude0
ClinVar
Risk rs1060502579(C;C)
Alt rs1060502579(C;C)
Reference Rs1060502579(G;G)
Significance Probable-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.36259139C>G
CLNSRC
CLNACC RCV000473754.1,