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rs727503990

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs727503990(-;-)
Make rs727503990(-;A)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position49054943
GeneKMT2D
is asnp
is mentioned by
dbSNPrs727503990
ebirs727503990
HLIrs727503990
Exacrs727503990
Varsomers727503990
Maprs727503990
PheGenIrs727503990
hapmaprs727503990
1000 genomesrs727503990
hgdprs727503990
ensemblrs727503990
gopubmedrs727503990
geneviewrs727503990
scholarrs727503990
googlers727503990
pharmgkbrs727503990
gwascentralrs727503990
openSNPrs727503990
23andMers727503990
23andMe allrs727503990
SNP Nexus

SNPshotrs727503990
SNPdbers727503990
MSV3drs727503990
GWAS Ctlgrs727503990
Max Magnitude0
ClinVar
Risk rs727503990(;)
Alt rs727503990(;)
Reference rs727503990(A;A)
Significance Pathogenic
Disease Kabuki make-up syndrome
Variation info
Gene KMT2D
CLNDBN Kabuki make-up syndrome
Reversed 1
HGVS NC_000012.11:g.49448726delT
CLNSRC
CLNACC RCV000153425.3,