rs398123722

Orientation

minus

Stabilized

minus

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

Make rs398123722(-;A)

Make rs398123722(A;A)

Reference

GRCh38 38.1/141

Chromosome

12

Position

49026935

Gene

KMT2D

is a	snp
is	mentioned by
dbSNP	rs398123722
dbSNP (classic)	rs398123722
ClinGen	rs398123722
ebi	rs398123722
HLI	rs398123722
Exac	rs398123722
Gnomad	rs398123722
Varsome	rs398123722
LitVar	rs398123722
Map	rs398123722
PheGenI	rs398123722
Biobank	rs398123722
1000 genomes	rs398123722
hgdp	rs398123722
ensembl	rs398123722
geneview	rs398123722
scholar	rs398123722
google	rs398123722
pharmgkb	rs398123722
gwascentral	rs398123722
openSNP	rs398123722
23andMe	rs398123722
SNPshot	rs398123722
SNPdbe	rs398123722
MSV3d	rs398123722
GWAS Ctlg	rs398123722

Max Magnitude

0

ClinVar
Risk	rs398123722(A;A)
Alt	rs398123722(A;A)
Reference	Rs398123722(-;-)
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.49420719dupT
CLNSRC	ClinVar
CLNACC	RCV000080140.3, RCV000178656.1,