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rs797045662

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797045662(-;A)
Make rs797045662(A;A)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position49050002
GeneKMT2D
is asnp
is mentioned by
dbSNPrs797045662
dbSNP (old)rs797045662
ClinGenrs797045662
ebirs797045662
HLIrs797045662
Exacrs797045662
Gnomadrs797045662
Varsomers797045662
Maprs797045662
PheGenIrs797045662
Biobankrs797045662
1000 genomesrs797045662
hgdprs797045662
ensemblrs797045662
gopubmedrs797045662
geneviewrs797045662
scholarrs797045662
googlers797045662
pharmgkbrs797045662
gwascentralrs797045662
openSNPrs797045662
23andMers797045662
23andMe allrs797045662
SNP Nexus

SNPshotrs797045662
SNPdbers797045662
MSV3drs797045662
GWAS Ctlgrs797045662
Max Magnitude0
ClinVar
Risk rs797045662(A;A)
Alt rs797045662(A;A)
Reference Rs797045662(-;-)
Significance Pathogenic
Disease Kabuki syndrome 1
Variation info
Gene KMT2D
CLNDBN Kabuki syndrome 1
Reversed 1
HGVS NC_000012.11:g.49443786dupT
CLNSRC
CLNACC RCV000193552.1,