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rs797045670

From SNPedia

Orientationminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797045670(-;G)
Make rs797045670(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position49053478
GeneKMT2D
is asnp
is mentioned by
dbSNPrs797045670
ClinGenrs797045670
ebirs797045670
HLIrs797045670
Exacrs797045670
Varsomers797045670
Maprs797045670
PheGenIrs797045670
hapmaprs797045670
1000 genomesrs797045670
hgdprs797045670
ensemblrs797045670
gopubmedrs797045670
geneviewrs797045670
scholarrs797045670
googlers797045670
pharmgkbrs797045670
gwascentralrs797045670
openSNPrs797045670
23andMers797045670
23andMe allrs797045670
SNP Nexus

SNPshotrs797045670
SNPdbers797045670
MSV3drs797045670
GWAS Ctlgrs797045670
Max Magnitude0
ClinVar
Risk rs797045670(G;G)
Alt rs797045670(G;G)
Reference Rs797045670(;)
Significance Pathogenic
Disease Kabuki make-up syndrome
Variation info
Gene KMT2D
CLNDBN Kabuki make-up syndrome
Reversed 1
HGVS NC_000012.11:g.49447262dupC
CLNSRC
CLNACC RCV000194921.1,