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rs267607237

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267607237(A;A)
Make rs267607237(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position49026430
GeneMLL2
is asnp
is mentioned by
dbSNPrs267607237
ebirs267607237
HLIrs267607237
Exacrs267607237
Varsomers267607237
Maprs267607237
PheGenIrs267607237
hapmaprs267607237
1000 genomesrs267607237
hgdprs267607237
ensemblrs267607237
gopubmedrs267607237
geneviewrs267607237
scholarrs267607237
googlers267607237
pharmgkbrs267607237
gwascentralrs267607237
openSNPrs267607237
23andMers267607237
23andMe allrs267607237
SNP Nexus

SNPshotrs267607237
SNPdbers267607237
MSV3drs267607237
GWAS Ctlgrs267607237
Max Magnitude0
ClinVar
Risk rs267607237(A;A)
Alt rs267607237(A;A)
Reference rs267607237(G;G)
Significance Pathogenic
Disease Kabuki make-up syndrome
Variation info
Gene KMT2D
CLNDBN Kabuki make-up syndrome
Reversed 1
HGVS NC_000012.11:g.49420213C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000007972.7,