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rs267607238

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267607238(C;T)
Make rs267607238(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position49022301
GeneMLL2
is asnp
is mentioned by
dbSNPrs267607238
ClinGenrs267607238
ebirs267607238
HLIrs267607238
Exacrs267607238
Varsomers267607238
Maprs267607238
PheGenIrs267607238
hapmaprs267607238
1000 genomesrs267607238
hgdprs267607238
ensemblrs267607238
gopubmedrs267607238
geneviewrs267607238
scholarrs267607238
googlers267607238
pharmgkbrs267607238
gwascentralrs267607238
openSNPrs267607238
23andMers267607238
23andMe allrs267607238
SNP Nexus

SNPshotrs267607238
SNPdbers267607238
MSV3drs267607238
GWAS Ctlgrs267607238
Max Magnitude0
ClinVar
Risk rs267607238(T;T)
Alt rs267607238(T;T)
Reference Rs267607238(C;C)
Significance Pathogenic
Disease Kabuki syndrome 1 not specified
Variation info
Gene KMT2D
CLNDBN Kabuki syndrome 1 not specified
Reversed 1
HGVS NC_000012.11:g.49416084G>A
CLNSRC HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000007975.7, RCV000153405.3,