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rs74315450

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs74315450(A;A)
Make rs74315450(A;G)
ReferenceGRCh38 38.1/141
Chromosome21
Position34859485
GeneRUNX1
is asnp
is mentioned by
dbSNPrs74315450
ebirs74315450
HLIrs74315450
Exacrs74315450
Varsomers74315450
Maprs74315450
PheGenIrs74315450
hapmaprs74315450
1000 genomesrs74315450
hgdprs74315450
ensemblrs74315450
gopubmedrs74315450
geneviewrs74315450
scholarrs74315450
googlers74315450
pharmgkbrs74315450
gwascentralrs74315450
openSNPrs74315450
23andMers74315450
23andMe allrs74315450
SNP Nexus

SNPshotrs74315450
SNPdbers74315450
MSV3drs74315450
GWAS Ctlgrs74315450
Max Magnitude0
OMIM151385
Desc
Variant0002
Relatedalso
ClinVar
Risk rs74315450(A;A)
Alt rs74315450(A;A)
Reference rs74315450(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.36231782C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000015550.25,