rs398123720

Orientation

minus

Stabilized

minus

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

Make rs398123720(-;T)

Make rs398123720(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

49027865

Gene

KMT2D

is a	snp
is	mentioned by
dbSNP	rs398123720
dbSNP (classic)	rs398123720
ClinGen	rs398123720
ebi	rs398123720
HLI	rs398123720
Exac	rs398123720
Gnomad	rs398123720
Varsome	rs398123720
LitVar	rs398123720
Map	rs398123720
PheGenI	rs398123720
Biobank	rs398123720
1000 genomes	rs398123720
hgdp	rs398123720
ensembl	rs398123720
geneview	rs398123720
scholar	rs398123720
google	rs398123720
pharmgkb	rs398123720
gwascentral	rs398123720
openSNP	rs398123720
23andMe	rs398123720
SNPshot	rs398123720
SNPdbe	rs398123720
MSV3d	rs398123720
GWAS Ctlg	rs398123720

Max Magnitude

0

ClinVar
Risk	rs398123720(T;T)
Alt	rs398123720(T;T)
Reference	Rs398123720(-;-)
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.49421649dupA
CLNSRC	ClinVar
CLNACC	RCV000080138.3, RCV000178625.1,