rs398123708

Orientation

minus

Stabilized

minus

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

Make rs398123708(C;T)

Make rs398123708(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

49033013

Gene

KMT2D

is a	snp
is	mentioned by
dbSNP	rs398123708
dbSNP (classic)	rs398123708
ClinGen	rs398123708
ebi	rs398123708
HLI	rs398123708
Exac	rs398123708
Gnomad	rs398123708
Varsome	rs398123708
LitVar	rs398123708
Map	rs398123708
PheGenI	rs398123708
Biobank	rs398123708
1000 genomes	rs398123708
hgdp	rs398123708
ensembl	rs398123708
geneview	rs398123708
scholar	rs398123708
google	rs398123708
pharmgkb	rs398123708
gwascentral	rs398123708
openSNP	rs398123708
23andMe	rs398123708
SNPshot	rs398123708
SNPdbe	rs398123708
MSV3d	rs398123708
GWAS Ctlg	rs398123708

Max Magnitude

0

ClinVar
Risk	rs398123708(T;T)
Alt	rs398123708(T;T)
Reference	Rs398123708(C;C)
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.49426796G>A
CLNSRC	ClinVar Emory University
CLNACC	RCV000080114.3, RCV000177985.1,