Have data from 23andMe or Ancestry? Make a report automatically with Promethease !

rs1057516039

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516039(A;A)
Make rs1057516039(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position49029400
GeneKMT2D
is asnp
is mentioned by
dbSNPrs1057516039
dbSNP (old)rs1057516039
ClinGenrs1057516039
ebirs1057516039
HLIrs1057516039
Exacrs1057516039
Gnomadrs1057516039
Varsomers1057516039
Maprs1057516039
PheGenIrs1057516039
Biobankrs1057516039
1000 genomesrs1057516039
hgdprs1057516039
ensemblrs1057516039
gopubmedrs1057516039
geneviewrs1057516039
scholarrs1057516039
googlers1057516039
pharmgkbrs1057516039
gwascentralrs1057516039
openSNPrs1057516039
23andMers1057516039
23andMe allrs1057516039
SNPshotrs1057516039
SNPdbers1057516039
MSV3drs1057516039
GWAS Ctlgrs1057516039
Max Magnitude0
ClinVar
Risk rs1057516039(A;A)
Alt rs1057516039(A;A)
Reference Rs1057516039(G;G)
Significance Pathogenic
Disease Kabuki syndrome 1
Variation info
Gene KMT2D
CLNDBN Kabuki syndrome 1
Reversed 1
HGVS NC_000012.11:g.49423183C>T
CLNSRC
CLNACC RCV000408635.1,