rs794727611

Orientation

minus

Stabilized

minus

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

Make rs794727611(-;-)

Make rs794727611(-;G)

Reference

GRCh38.p2 38.2/146

Chromosome

12

Position

49032224

Gene

KMT2D

is a	snp
is	mentioned by
dbSNP	rs794727611
dbSNP (classic)	rs794727611
ClinGen	rs794727611
ebi	rs794727611
HLI	rs794727611
Exac	rs794727611
Gnomad	rs794727611
Varsome	rs794727611
LitVar	rs794727611
Map	rs794727611
PheGenI	rs794727611
Biobank	rs794727611
1000 genomes	rs794727611
hgdp	rs794727611
ensembl	rs794727611
geneview	rs794727611
scholar	rs794727611
google	rs794727611
pharmgkb	rs794727611
gwascentral	rs794727611
openSNP	rs794727611
23andMe	rs794727611
SNPshot	rs794727611
SNPdbe	rs794727611
MSV3d	rs794727611
GWAS Ctlg	rs794727611

Max Magnitude

0

ClinVar
Risk	rs794727611(-;-)
Alt	rs794727611(-;-)
Reference	Rs794727611(G;G)
Significance	Pathogenic
Disease	Kabuki syndrome 1
Variation	info
Gene	KMT2D
CLNDBN	Kabuki syndrome 1
Reversed	1
HGVS	NC_000012.11:g.49426007delC
CLNSRC
CLNACC	RCV000177996.1,