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rs797045658

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs797045658(C;T)
Make rs797045658(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position49032860
GeneKMT2D
is asnp
is mentioned by
dbSNPrs797045658
ebirs797045658
HLIrs797045658
Exacrs797045658
Varsomers797045658
Maprs797045658
PheGenIrs797045658
hapmaprs797045658
1000 genomesrs797045658
hgdprs797045658
ensemblrs797045658
gopubmedrs797045658
geneviewrs797045658
scholarrs797045658
googlers797045658
pharmgkbrs797045658
gwascentralrs797045658
openSNPrs797045658
23andMers797045658
23andMe allrs797045658
SNP Nexus

SNPshotrs797045658
SNPdbers797045658
MSV3drs797045658
GWAS Ctlgrs797045658
Max Magnitude0
ClinVar
Risk rs797045658(T;T)
Alt rs797045658(T;T)
Reference rs797045658(C;C)
Significance Pathogenic
Disease Kabuki make-up syndrome
Variation info
Gene KMT2D
CLNDBN Kabuki make-up syndrome
Reversed 1
HGVS NC_000012.11:g.49426643G>A
CLNSRC
CLNACC RCV000194043.1,