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rs1057519422

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057519422(G;T)
Make rs1057519422(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position49054351
GeneKMT2D
is asnp
is mentioned by
dbSNPrs1057519422
dbSNP (old)rs1057519422
ClinGenrs1057519422
ebirs1057519422
HLIrs1057519422
Exacrs1057519422
Gnomadrs1057519422
Varsomers1057519422
Maprs1057519422
PheGenIrs1057519422
Biobankrs1057519422
1000 genomesrs1057519422
hgdprs1057519422
ensemblrs1057519422
gopubmedrs1057519422
geneviewrs1057519422
scholarrs1057519422
googlers1057519422
pharmgkbrs1057519422
gwascentralrs1057519422
openSNPrs1057519422
23andMers1057519422
23andMe allrs1057519422
SNPshotrs1057519422
SNPdbers1057519422
MSV3drs1057519422
GWAS Ctlgrs1057519422
Max Magnitude0
ClinVar
Risk rs1057519422(T;T)
Alt rs1057519422(T;T)
Reference Rs1057519422(G;G)
Significance Pathogenic
Disease Kabuki syndrome 1
Variation info
Gene KMT2D
CLNDBN Kabuki syndrome 1
Reversed 1
HGVS NC_000012.11:g.49448134C>A
CLNSRC
CLNACC RCV000417038.1,