rs398123733

Orientation

minus

Stabilized

minus

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

Make rs398123733(-;-)

Make rs398123733(-;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

49022819

Gene

KMT2D

is a	snp
is	mentioned by
dbSNP	rs398123733
dbSNP (classic)	rs398123733
ClinGen	rs398123733
ebi	rs398123733
HLI	rs398123733
Exac	rs398123733
Gnomad	rs398123733
Varsome	rs398123733
LitVar	rs398123733
Map	rs398123733
PheGenI	rs398123733
Biobank	rs398123733
1000 genomes	rs398123733
hgdp	rs398123733
ensembl	rs398123733
geneview	rs398123733
scholar	rs398123733
google	rs398123733
pharmgkb	rs398123733
gwascentral	rs398123733
openSNP	rs398123733
23andMe	rs398123733
SNPshot	rs398123733
SNPdbe	rs398123733
MSV3d	rs398123733
GWAS Ctlg	rs398123733

Max Magnitude

0

ClinVar
Risk	rs398123733(-;-)
Alt	rs398123733(-;-)
Reference	Rs398123733(G;G)
Significance	Pathogenic
Disease	not provided Kabuki syndrome 1
Variation	info
Gene	KMT2D
CLNDBN	not provided Kabuki syndrome 1
Reversed	1
HGVS	NC_000012.11:g.49416602delC
CLNSRC	ClinVar
CLNACC	RCV000080153.3, RCV000179088.1,