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rs727503979

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs727503979(C;T)
Make rs727503979(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position49026710
GeneKMT2D
is asnp
is mentioned by
dbSNPrs727503979
ebirs727503979
HLIrs727503979
Exacrs727503979
Varsomers727503979
Maprs727503979
PheGenIrs727503979
hapmaprs727503979
1000 genomesrs727503979
hgdprs727503979
ensemblrs727503979
gopubmedrs727503979
geneviewrs727503979
scholarrs727503979
googlers727503979
pharmgkbrs727503979
gwascentralrs727503979
openSNPrs727503979
23andMers727503979
23andMe allrs727503979
SNP Nexus

SNPshotrs727503979
SNPdbers727503979
MSV3drs727503979
GWAS Ctlgrs727503979
Max Magnitude0
ClinVar
Risk rs727503979(T;T)
Alt rs727503979(T;T)
Reference rs727503979(C;C)
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.49420493G>A
CLNSRC HGMD
CLNACC RCV000153407.2, RCV000178657.1,