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rs797045660

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797045660(-;T)
Make rs797045660(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position49050633
GeneKMT2D
is asnp
is mentioned by
dbSNPrs797045660
dbSNP (old)rs797045660
ClinGenrs797045660
ebirs797045660
HLIrs797045660
Exacrs797045660
Gnomadrs797045660
Varsomers797045660
Maprs797045660
PheGenIrs797045660
Biobankrs797045660
1000 genomesrs797045660
hgdprs797045660
ensemblrs797045660
gopubmedrs797045660
geneviewrs797045660
scholarrs797045660
googlers797045660
pharmgkbrs797045660
gwascentralrs797045660
openSNPrs797045660
23andMers797045660
23andMe allrs797045660
SNP Nexus

SNPshotrs797045660
SNPdbers797045660
MSV3drs797045660
GWAS Ctlgrs797045660
Max Magnitude0
ClinVar
Risk rs797045660(T;T)
Alt rs797045660(T;T)
Reference Rs797045660(-;-)
Significance Pathogenic
Disease Kabuki syndrome 1
Variation info
Gene KMT2D
CLNDBN Kabuki syndrome 1
Reversed 1
HGVS NC_000012.11:g.49444416_49444417insA
CLNSRC
CLNACC RCV000193617.1,