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rs797045659

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs797045659(C;T)
Make rs797045659(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position49026887
GeneKMT2D
is asnp
is mentioned by
dbSNPrs797045659
dbSNP (old)rs797045659
ClinGenrs797045659
ebirs797045659
HLIrs797045659
Exacrs797045659
Gnomadrs797045659
Varsomers797045659
Maprs797045659
PheGenIrs797045659
Biobankrs797045659
1000 genomesrs797045659
hgdprs797045659
ensemblrs797045659
gopubmedrs797045659
geneviewrs797045659
scholarrs797045659
googlers797045659
pharmgkbrs797045659
gwascentralrs797045659
openSNPrs797045659
23andMers797045659
23andMe allrs797045659
SNP Nexus

SNPshotrs797045659
SNPdbers797045659
MSV3drs797045659
GWAS Ctlgrs797045659
Max Magnitude0
ClinVar
Risk rs797045659(T;T)
Alt rs797045659(T;T)
Reference Rs797045659(C;C)
Significance Pathogenic
Disease Kabuki syndrome 1 not provided
Variation info
Gene KMT2D
CLNDBN Kabuki syndrome 1 not provided
Reversed 1
HGVS NC_000012.11:g.49420670G>A
CLNSRC
CLNACC RCV000194362.1, RCV000484393.1,