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rs1060499724

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1060499724(-;-)
Make rs1060499724(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position49042576
GeneKMT2D
is asnp
is mentioned by
dbSNPrs1060499724
dbSNP (classic)rs1060499724
ClinGenrs1060499724
ebirs1060499724
HLIrs1060499724
Exacrs1060499724
Gnomadrs1060499724
Varsomers1060499724
LitVarrs1060499724
Maprs1060499724
PheGenIrs1060499724
Biobankrs1060499724
1000 genomesrs1060499724
hgdprs1060499724
ensemblrs1060499724
geneviewrs1060499724
scholarrs1060499724
googlers1060499724
pharmgkbrs1060499724
gwascentralrs1060499724
openSNPrs1060499724
23andMers1060499724
23andMe allrs1060499724
SNPshotrs1060499724
SNPdbers1060499724
MSV3drs1060499724
GWAS Ctlgrs1060499724
Max Magnitude0
ClinVar
Risk rs1060499724(-;-)
Alt rs1060499724(-;-)
Reference Rs1060499724(C;C)
Significance Pathogenic
Disease Kabuki syndrome 1
Variation info
Gene KMT2D
CLNDBN Kabuki syndrome 1
Reversed 1
HGVS NC_000012.11:g.49436359delG
CLNSRC
CLNACC RCV000468099.1,