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rs863224888

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs863224888(-;C)
Make rs863224888(C;C)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position118506226
GeneKMT2A
is asnp
is mentioned by
dbSNPrs863224888
dbSNP (old)rs863224888
ClinGenrs863224888
ebirs863224888
HLIrs863224888
Exacrs863224888
Gnomadrs863224888
Varsomers863224888
Maprs863224888
PheGenIrs863224888
Biobankrs863224888
1000 genomesrs863224888
hgdprs863224888
ensemblrs863224888
gopubmedrs863224888
geneviewrs863224888
scholarrs863224888
googlers863224888
pharmgkbrs863224888
gwascentralrs863224888
openSNPrs863224888
23andMers863224888
23andMe allrs863224888
SNP Nexus

SNPshotrs863224888
SNPdbers863224888
MSV3drs863224888
GWAS Ctlgrs863224888
Max Magnitude0
ClinVar
Risk rs863224888(C;C)
Alt rs863224888(C;C)
Reference Rs863224888(-;-)
Significance Pathogenic
Disease Wiedemann-Steiner syndrome
Variation info
Gene KMT2A
CLNDBN Wiedemann-Steiner syndrome
Reversed 0
HGVS NC_000011.9:g.118376941dupC
CLNSRC
CLNACC RCV000196622.1,