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rs727503983

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs727503983(C;T)
Make rs727503983(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position49038868
GeneKMT2D
is asnp
is mentioned by
dbSNPrs727503983
dbSNP (old)rs727503983
ClinGenrs727503983
ebirs727503983
HLIrs727503983
Exacrs727503983
Gnomadrs727503983
Varsomers727503983
Maprs727503983
PheGenIrs727503983
Biobankrs727503983
1000 genomesrs727503983
hgdprs727503983
ensemblrs727503983
gopubmedrs727503983
geneviewrs727503983
scholarrs727503983
googlers727503983
pharmgkbrs727503983
gwascentralrs727503983
openSNPrs727503983
23andMers727503983
23andMe allrs727503983
SNP Nexus

SNPshotrs727503983
SNPdbers727503983
MSV3drs727503983
GWAS Ctlgrs727503983
Max Magnitude0
ClinVar
Risk rs727503983(T;T)
Alt rs727503983(T;T)
Reference Rs727503983(C;C)
Significance Pathogenic
Disease not provided Kabuki syndrome 1
Variation info
Gene KMT2D
CLNDBN not provided Kabuki syndrome 1
Reversed 1
HGVS NC_000012.11:g.49432651G>A
CLNSRC HGMD
CLNACC RCV000153412.2, RCV000177775.1,