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rs797045001

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs797045001(A;C)
Make rs797045001(C;C)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position49046792
GeneKMT2D
is asnp
is mentioned by
dbSNPrs797045001
ebirs797045001
HLIrs797045001
Exacrs797045001
Varsomers797045001
Maprs797045001
PheGenIrs797045001
hapmaprs797045001
1000 genomesrs797045001
hgdprs797045001
ensemblrs797045001
gopubmedrs797045001
geneviewrs797045001
scholarrs797045001
googlers797045001
pharmgkbrs797045001
gwascentralrs797045001
openSNPrs797045001
23andMers797045001
23andMe allrs797045001
SNP Nexus

SNPshotrs797045001
SNPdbers797045001
MSV3drs797045001
GWAS Ctlgrs797045001
Max Magnitude0
ClinVar
Risk rs797045001(C;C)
Alt rs797045001(C;C)
Reference rs797045001(A;A)
Significance Pathogenic
Disease Kabuki make-up syndrome
Variation info
Gene KMT2D
CLNDBN Kabuki make-up syndrome
Reversed 1
HGVS NC_000012.11:g.49440575T>G
CLNSRC
CLNACC RCV000190497.1,