rs794727610

Orientation

minus

Stabilized

minus

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

Make rs794727610(-;-)

Make rs794727610(-;A)

Reference

GRCh38.p2 38.2/146

Chromosome

12

Position

49032766

Gene

KMT2D

is a	snp
is	mentioned by
dbSNP	rs794727610
dbSNP (classic)	rs794727610
ClinGen	rs794727610
ebi	rs794727610
HLI	rs794727610
Exac	rs794727610
Gnomad	rs794727610
Varsome	rs794727610
LitVar	rs794727610
Map	rs794727610
PheGenI	rs794727610
Biobank	rs794727610
1000 genomes	rs794727610
hgdp	rs794727610
ensembl	rs794727610
geneview	rs794727610
scholar	rs794727610
google	rs794727610
pharmgkb	rs794727610
gwascentral	rs794727610
openSNP	rs794727610
23andMe	rs794727610
SNPshot	rs794727610
SNPdbe	rs794727610
MSV3d	rs794727610
GWAS Ctlg	rs794727610

Max Magnitude

0

ClinVar
Risk	rs794727610(-;-)
Alt	rs794727610(-;-)
Reference	Rs794727610(A;A)
Significance	Pathogenic
Disease	Kabuki syndrome 1
Variation	info
Gene	KMT2D
CLNDBN	Kabuki syndrome 1
Reversed	1
HGVS	NC_000012.11:g.49426549delT
CLNSRC
CLNACC	RCV000177995.1,