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rs1057519067

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(ACAG;ACAG) 0 common in clinvar
Make rs1057519067(-;-)
Make rs1057519067(-;ACAG)
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position49033227
GeneKMT2D
is asnp
is mentioned by
dbSNPrs1057519067
dbSNP (old)rs1057519067
ClinGenrs1057519067
ebirs1057519067
HLIrs1057519067
Exacrs1057519067
Gnomadrs1057519067
Varsomers1057519067
LitVarrs1057519067
Maprs1057519067
PheGenIrs1057519067
Biobankrs1057519067
1000 genomesrs1057519067
hgdprs1057519067
ensemblrs1057519067
gopubmedrs1057519067
geneviewrs1057519067
scholarrs1057519067
googlers1057519067
pharmgkbrs1057519067
gwascentralrs1057519067
openSNPrs1057519067
23andMers1057519067
23andMe allrs1057519067
SNPshotrs1057519067
SNPdbers1057519067
MSV3drs1057519067
GWAS Ctlgrs1057519067
Max Magnitude0
ClinVar
Risk rs1057519067(-;-)
Alt rs1057519067(-;-)
Reference Rs1057519067(ACAG;ACAG)
Significance Pathogenic
Disease Kabuki syndrome 1
Variation info
Gene KMT2D
CLNDBN Kabuki syndrome 1
Reversed 1
HGVS NC_000012.11:g.49427010_49427013del4
CLNSRC
CLNACC RCV000416323.1,