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rs727503989

From SNPedia

Orientationminus
Geno Mag Summary
(AG;AG) 0 common in clinvar
Make rs727503989(-;-)
Make rs727503989(-;AG)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position49051868
GeneKMT2D
is asnp
is mentioned by
dbSNPrs727503989
ebirs727503989
HLIrs727503989
Exacrs727503989
Varsomers727503989
Maprs727503989
PheGenIrs727503989
hapmaprs727503989
1000 genomesrs727503989
hgdprs727503989
ensemblrs727503989
gopubmedrs727503989
geneviewrs727503989
scholarrs727503989
googlers727503989
pharmgkbrs727503989
gwascentralrs727503989
openSNPrs727503989
23andMers727503989
23andMe allrs727503989
SNP Nexus

SNPshotrs727503989
SNPdbers727503989
MSV3drs727503989
GWAS Ctlgrs727503989
Max Magnitude0
ClinVar
Risk rs727503989(;)
Alt rs727503989(;)
Reference rs727503989(AG;AG)
Significance Pathogenic
Disease not provided Kabuki make-up syndrome
Variation info
Gene KMT2D
CLNDBN not provided Kabuki make-up syndrome
Reversed 1
HGVS NC_000012.11:g.49445651_49445652delCT
CLNSRC
CLNACC RCV000153421.2, RCV000173775.1,