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rs863224895

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs863224895(C;C)
Make rs863224895(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position118488623
GeneKMT2A
is asnp
is mentioned by
dbSNPrs863224895
dbSNP (classic)rs863224895
ClinGenrs863224895
ebirs863224895
HLIrs863224895
Exacrs863224895
Gnomadrs863224895
Varsomers863224895
LitVarrs863224895
Maprs863224895
PheGenIrs863224895
Biobankrs863224895
1000 genomesrs863224895
hgdprs863224895
ensemblrs863224895
geneviewrs863224895
scholarrs863224895
googlers863224895
pharmgkbrs863224895
gwascentralrs863224895
openSNPrs863224895
23andMers863224895
SNPshotrs863224895
SNPdbers863224895
MSV3drs863224895
GWAS Ctlgrs863224895
Max Magnitude0
ClinVar
Risk rs863224895(C;C)
Alt rs863224895(C;C)
Reference Rs863224895(T;T)
Significance Probable-Pathogenic
Disease Wiedemann-Steiner syndrome
Variation info
Gene KMT2A
CLNDBN Wiedemann-Steiner syndrome
Reversed 0
HGVS NC_000011.9:g.118359338T>C
CLNSRC
CLNACC RCV000199053.1,