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rs267607240

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs267607240(A;T)
Make rs267607240(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position49030985
GeneMLL2
is asnp
is mentioned by
dbSNPrs267607240
ebirs267607240
HLIrs267607240
Exacrs267607240
Varsomers267607240
Maprs267607240
PheGenIrs267607240
hapmaprs267607240
1000 genomesrs267607240
hgdprs267607240
ensemblrs267607240
gopubmedrs267607240
geneviewrs267607240
scholarrs267607240
googlers267607240
pharmgkbrs267607240
gwascentralrs267607240
openSNPrs267607240
23andMers267607240
23andMe allrs267607240
SNP Nexus

SNPshotrs267607240
SNPdbers267607240
MSV3drs267607240
GWAS Ctlgrs267607240
Max Magnitude0
ClinVar
Risk rs267607240(T;T)
Alt rs267607240(T;T)
Reference rs267607240(A;A)
Significance Pathogenic
Disease Kabuki make-up syndrome
Variation info
Gene KMT2D
CLNDBN Kabuki make-up syndrome
Reversed 1
HGVS NC_000012.11:g.49424768T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000007973.6,