rs797044630

Orientation

minus

Stabilized

minus

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

Make rs797044630(AGCTGAGCCATCC;AGCTGAGCCATCC)

Make rs797044630(AGCTGAGCCATCC;CG)

Reference

GRCh38.p2 38.2/146

Chromosome

12

Position

49050935

Gene

KMT2D

is a	snp
is	mentioned by
dbSNP	rs797044630
dbSNP (classic)	rs797044630
ClinGen	rs797044630
ebi	rs797044630
HLI	rs797044630
Exac	rs797044630
Gnomad	rs797044630
Varsome	rs797044630
LitVar	rs797044630
Map	rs797044630
PheGenI	rs797044630
Biobank	rs797044630
1000 genomes	rs797044630
hgdp	rs797044630
ensembl	rs797044630
geneview	rs797044630
scholar	rs797044630
google	rs797044630
pharmgkb	rs797044630
gwascentral	rs797044630
openSNP	rs797044630
23andMe	rs797044630
SNPshot	rs797044630
SNPdbe	rs797044630
MSV3d	rs797044630
GWAS Ctlg	rs797044630

Max Magnitude

0

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,