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rs1057519595

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057519595(-;-)
Make rs1057519595(-;T)
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position49050594
GeneKMT2D
is asnp
is mentioned by
dbSNPrs1057519595
dbSNP (old)rs1057519595
ClinGenrs1057519595
ebirs1057519595
HLIrs1057519595
Exacrs1057519595
Gnomadrs1057519595
Varsomers1057519595
Maprs1057519595
PheGenIrs1057519595
Biobankrs1057519595
1000 genomesrs1057519595
hgdprs1057519595
ensemblrs1057519595
gopubmedrs1057519595
geneviewrs1057519595
scholarrs1057519595
googlers1057519595
pharmgkbrs1057519595
gwascentralrs1057519595
openSNPrs1057519595
23andMers1057519595
23andMe allrs1057519595
SNPshotrs1057519595
SNPdbers1057519595
MSV3drs1057519595
GWAS Ctlgrs1057519595
Max Magnitude0
ClinVar
Risk rs1057519595(-;-)
Alt rs1057519595(-;-)
Reference Rs1057519595(T;T)
Significance Pathogenic
Disease Kabuki syndrome 1
Variation info
Gene KMT2D
CLNDBN Kabuki syndrome 1
Reversed 1
HGVS NC_000012.11:g.49444377delA
CLNSRC
CLNACC RCV000417094.1,