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rs121912500

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912500(A;A)
Make rs121912500(A;C)
ReferenceGRCh38 38.1/141
Chromosome21
Position34886941
GeneRUNX1
is asnp
is mentioned by
dbSNPrs121912500
dbSNP (classic)rs121912500
ClinGenrs121912500
ebirs121912500
HLIrs121912500
Exacrs121912500
Gnomadrs121912500
Varsomers121912500
LitVarrs121912500
Maprs121912500
PheGenIrs121912500
Biobankrs121912500
1000 genomesrs121912500
hgdprs121912500
ensemblrs121912500
geneviewrs121912500
scholarrs121912500
googlers121912500
pharmgkbrs121912500
gwascentralrs121912500
openSNPrs121912500
23andMers121912500
SNPshotrs121912500
SNPdbers121912500
MSV3drs121912500
GWAS Ctlgrs121912500
Max Magnitude0
OMIM151385
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121912500(A;A)
Alt rs121912500(A;A)
Reference Rs121912500(C;C)
Significance Pathogenic
Disease Transient myeloproliferative disorder of Down syndrome Leukemia
Variation info
Gene RUNX1 LOC101928210
CLNDBN Transient myeloproliferative disorder of Down syndrome Leukemia, acute myeloid, m0 subtype
Reversed 1
HGVS NC_000021.8:g.36259238G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000015555.25, RCV000015556.24,