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rs398123753

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs398123753(-;-)
Make rs398123753(-;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position49041175
GeneKMT2D
is asnp
is mentioned by
dbSNPrs398123753
ebirs398123753
HLIrs398123753
Exacrs398123753
Varsomers398123753
Maprs398123753
PheGenIrs398123753
hapmaprs398123753
1000 genomesrs398123753
hgdprs398123753
ensemblrs398123753
gopubmedrs398123753
geneviewrs398123753
scholarrs398123753
googlers398123753
pharmgkbrs398123753
gwascentralrs398123753
openSNPrs398123753
23andMers398123753
23andMe allrs398123753
SNP Nexus

SNPshotrs398123753
SNPdbers398123753
MSV3drs398123753
GWAS Ctlgrs398123753
Max Magnitude0
ClinVar
Risk rs398123753(;)
Alt rs398123753(;)
Reference rs398123753(T;T)
Significance Other
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.49434958delA
CLNSRC HGMD
CLNACC RCV000080202.3, RCV000146222.3,