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rs797045667

From SNPedia

Orientationminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797045667(-;G)
Make rs797045667(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position49044504
GeneKMT2D
is asnp
is mentioned by
dbSNPrs797045667
ClinGenrs797045667
ebirs797045667
HLIrs797045667
Exacrs797045667
Varsomers797045667
Maprs797045667
PheGenIrs797045667
hapmaprs797045667
1000 genomesrs797045667
hgdprs797045667
ensemblrs797045667
gopubmedrs797045667
geneviewrs797045667
scholarrs797045667
googlers797045667
pharmgkbrs797045667
gwascentralrs797045667
openSNPrs797045667
23andMers797045667
23andMe allrs797045667
SNP Nexus

SNPshotrs797045667
SNPdbers797045667
MSV3drs797045667
GWAS Ctlgrs797045667
Max Magnitude0
ClinVar
Risk rs797045667(G;G)
Alt rs797045667(G;G)
Reference Rs797045667(;)
Significance Pathogenic
Disease Kabuki make-up syndrome
Variation info
Gene KMT2D
CLNDBN Kabuki make-up syndrome
Reversed 1
HGVS NC_000012.11:g.49438288dupC
CLNSRC
CLNACC RCV000193869.1,