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rs267607239

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267607239(C;T)
Make rs267607239(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position49022332
GeneMLL2
is asnp
is mentioned by
dbSNPrs267607239
ebirs267607239
HLIrs267607239
Exacrs267607239
Varsomers267607239
Maprs267607239
PheGenIrs267607239
hapmaprs267607239
1000 genomesrs267607239
hgdprs267607239
ensemblrs267607239
gopubmedrs267607239
geneviewrs267607239
scholarrs267607239
googlers267607239
pharmgkbrs267607239
gwascentralrs267607239
openSNPrs267607239
23andMers267607239
23andMe allrs267607239
SNP Nexus

SNPshotrs267607239
SNPdbers267607239
MSV3drs267607239
GWAS Ctlgrs267607239
Max Magnitude0
ClinVar
Risk rs267607239(T;T)
Alt rs267607239(T;T)
Reference rs267607239(C;C)
Significance Pathogenic
Disease Kabuki make-up syndrome
Variation info
Gene KMT2D
CLNDBN Kabuki make-up syndrome
Reversed 1
HGVS NC_000012.11:g.49416115G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000007974.7,