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rs794727497

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TGTCCACAGTG;TGTCCACAGTG) 0 common in clinvar
Make rs794727497(-;-)
Make rs794727497(-;GTGTGTCCACA)
Make rs794727497(GTGTGTCCACA;GTGTGTCCACA)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position49054753
GeneKMT2D
is asnp
is mentioned by
dbSNPrs794727497
dbSNP (old)rs794727497
ClinGenrs794727497
ebirs794727497
HLIrs794727497
Exacrs794727497
Gnomadrs794727497
Varsomers794727497
Maprs794727497
PheGenIrs794727497
Biobankrs794727497
1000 genomesrs794727497
hgdprs794727497
ensemblrs794727497
gopubmedrs794727497
geneviewrs794727497
scholarrs794727497
googlers794727497
pharmgkbrs794727497
gwascentralrs794727497
openSNPrs794727497
23andMers794727497
23andMe allrs794727497
SNP Nexus

SNPshotrs794727497
SNPdbers794727497
MSV3drs794727497
GWAS Ctlgrs794727497
Max Magnitude0
ClinVar
Risk rs794727497(-;-)
Alt rs794727497(-;-)
Reference Rs794727497(TGTCCACAGTG;TGTCCACAGTG)
Significance Pathogenic
Disease Kabuki syndrome 1
Variation info
Gene KMT2D
CLNDBN Kabuki syndrome 1
Reversed 1
HGVS NC_000012.11:g.49448536_49448546delTGTGGACACAC
CLNSRC
CLNACC RCV000177176.1,