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rs574622908

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs574622908(G;T)
Make rs574622908(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position49046358
GeneKMT2D
is asnp
is mentioned by
dbSNPrs574622908
ebirs574622908
HLIrs574622908
Exacrs574622908
Varsomers574622908
Maprs574622908
PheGenIrs574622908
hapmaprs574622908
1000 genomesrs574622908
hgdprs574622908
ensemblrs574622908
gopubmedrs574622908
geneviewrs574622908
scholarrs574622908
googlers574622908
pharmgkbrs574622908
gwascentralrs574622908
openSNPrs574622908
23andMers574622908
23andMe allrs574622908
SNP Nexus

SNPshotrs574622908
SNPdbers574622908
MSV3drs574622908
GWAS Ctlgrs574622908
Max Magnitude0
ClinVar
Risk rs574622908(T;T)
Alt rs574622908(T;T)
Reference rs574622908(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.49440141G>C
CLNSRC
CLNACC RCV000175041.1,