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rs398123735

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GCCAACCGGCGGGAGAA;GCCAACCGGCGGGAGAA) 0 common in clinvar
Make rs398123735(C;C)
Make rs398123735(C;GCCAACCGGCGGGAGAA)
ReferenceGRCh38 38.1/141
Chromosome12
Position49022606
GeneKMT2D
is asnp
is mentioned by
dbSNPrs398123735
ebirs398123735
HLIrs398123735
Exacrs398123735
Varsomers398123735
Maprs398123735
PheGenIrs398123735
hapmaprs398123735
1000 genomesrs398123735
hgdprs398123735
ensemblrs398123735
gopubmedrs398123735
geneviewrs398123735
scholarrs398123735
googlers398123735
pharmgkbrs398123735
gwascentralrs398123735
openSNPrs398123735
23andMers398123735
23andMe allrs398123735
SNP Nexus

SNPshotrs398123735
SNPdbers398123735
MSV3drs398123735
GWAS Ctlgrs398123735
Max Magnitude0
ClinVar
Risk rs398123735(C;C)
Alt rs398123735(C;C)
Reference rs398123735(GCCAACCGGCGGGAGAA;GCCAACCGGCGGGAGAA)
Significance Pathogenic
Disease not provided Kabuki make-up syndrome
Variation info
Gene KMT2D
CLNDBN not provided Kabuki make-up syndrome
Reversed 1
HGVS NC_000012.11:g.49416389_49416405del17insG
CLNSRC ClinVar
CLNACC RCV000080155.3, RCV000179089.1,