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rs556669370

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs556669370(A;A)
Make rs556669370(A;G)
ReferenceGRCh38 38.1/142
Chromosome12
Position49041974
GeneKMT2D
is asnp
is mentioned by
dbSNPrs556669370
ebirs556669370
HLIrs556669370
Exacrs556669370
Varsomers556669370
Maprs556669370
PheGenIrs556669370
hapmaprs556669370
1000 genomesrs556669370
hgdprs556669370
ensemblrs556669370
gopubmedrs556669370
geneviewrs556669370
scholarrs556669370
googlers556669370
pharmgkbrs556669370
gwascentralrs556669370
openSNPrs556669370
23andMers556669370
23andMe allrs556669370
SNP Nexus

SNPshotrs556669370
SNPdbers556669370
MSV3drs556669370
GWAS Ctlgrs556669370
Max Magnitude0
ClinVar
Risk rs556669370(A,T;A,T)
Alt rs556669370(A,T;A,T)
Reference rs556669370(G;G)
Significance Pathogenic
Disease Kabuki make-up syndrome
Variation info
Gene KMT2D
CLNDBN Kabuki make-up syndrome
Reversed 0
HGVS NC_000012.11:g.49435757G>T
CLNSRC ClinVar University of Chicago
CLNACC RCV000146220.1,