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rs797045661

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797045661(-;-)
Make rs797045661(-;G)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position49054625
GeneKMT2D
is asnp
is mentioned by
dbSNPrs797045661
ClinGenrs797045661
ebirs797045661
HLIrs797045661
Exacrs797045661
Varsomers797045661
Maprs797045661
PheGenIrs797045661
hapmaprs797045661
1000 genomesrs797045661
hgdprs797045661
ensemblrs797045661
gopubmedrs797045661
geneviewrs797045661
scholarrs797045661
googlers797045661
pharmgkbrs797045661
gwascentralrs797045661
openSNPrs797045661
23andMers797045661
23andMe allrs797045661
SNP Nexus

SNPshotrs797045661
SNPdbers797045661
MSV3drs797045661
GWAS Ctlgrs797045661
Max Magnitude0
ClinVar
Risk rs797045661(-;-)
Alt rs797045661(-;-)
Reference Rs797045661(G;G)
Significance Pathogenic
Disease Kabuki syndrome 1
Variation info
Gene KMT2D
CLNDBN Kabuki syndrome 1
Reversed 1
HGVS NC_000012.11:g.49448408delC
CLNSRC
CLNACC RCV000192334.1,