rs794727689

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs794727689(-;-)

Make rs794727689(-;G)

Reference

GRCh38.p2 38.2/146

Chromosome

12

Position

49026794

Gene

KMT2D

is a	snp
is	mentioned by
dbSNP	rs794727689
dbSNP (classic)	rs794727689
ClinGen	rs794727689
ebi	rs794727689
HLI	rs794727689
Exac	rs794727689
Gnomad	rs794727689
Varsome	rs794727689
LitVar	rs794727689
Map	rs794727689
PheGenI	rs794727689
Biobank	rs794727689
1000 genomes	rs794727689
hgdp	rs794727689
ensembl	rs794727689
geneview	rs794727689
scholar	rs794727689
google	rs794727689
pharmgkb	rs794727689
gwascentral	rs794727689
openSNP	rs794727689
23andMe	rs794727689
SNPshot	rs794727689
SNPdbe	rs794727689
MSV3d	rs794727689
GWAS Ctlg	rs794727689

Max Magnitude

0

ClinVar
Risk	rs794727689(-;-)
Alt	rs794727689(-;-)
Reference	Rs794727689(G;G)
Significance	Pathogenic
Disease	Kabuki syndrome 1
Variation	info
Gene	KMT2D
CLNDBN	Kabuki syndrome 1
Reversed	1
HGVS	NC_000012.11:g.49420577delC
CLNSRC
CLNACC	RCV000178653.1,