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rs797044630

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CG;CG) 0 common in clinvar
Make rs797044630(AGCTGAGCCATCC;AGCTGAGCCATCC)
Make rs797044630(AGCTGAGCCATCC;CG)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position49050935
GeneKMT2D
is asnp
is mentioned by
dbSNPrs797044630
dbSNP (old)rs797044630
ClinGenrs797044630
ebirs797044630
HLIrs797044630
Exacrs797044630
Gnomadrs797044630
Varsomers797044630
Maprs797044630
PheGenIrs797044630
Biobankrs797044630
1000 genomesrs797044630
hgdprs797044630
ensemblrs797044630
gopubmedrs797044630
geneviewrs797044630
scholarrs797044630
googlers797044630
pharmgkbrs797044630
gwascentralrs797044630
openSNPrs797044630
23andMers797044630
23andMe allrs797044630
SNP Nexus

SNPshotrs797044630
SNPdbers797044630
MSV3drs797044630
GWAS Ctlgrs797044630
Max Magnitude0
ClinVar
Risk rs797044630(AGCTGAGCCATCC;AGCTGAGCCATCC)
Alt rs797044630(AGCTGAGCCATCC;AGCTGAGCCATCC)
Reference Rs797044630(CG;CG)
Significance Pathogenic
Disease Kabuki syndrome 1
Variation info
Gene KMT2D
CLNDBN Kabuki syndrome 1
Reversed 1
HGVS NC_000012.11:g.49444718_49444719delCGinsGGATGGCTCAGCT
CLNSRC
CLNACC RCV000173776.1,