rs398123716

Orientation

minus

Stabilized

minus

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

Make rs398123716(-;-)

Make rs398123716(-;C)

Reference

GRCh38 38.1/141

Chromosome

12

Position

49031673

Gene

KMT2D

is a	snp
is	mentioned by
dbSNP	rs398123716
dbSNP (classic)	rs398123716
ClinGen	rs398123716
ebi	rs398123716
HLI	rs398123716
Exac	rs398123716
Gnomad	rs398123716
Varsome	rs398123716
LitVar	rs398123716
Map	rs398123716
PheGenI	rs398123716
Biobank	rs398123716
1000 genomes	rs398123716
hgdp	rs398123716
ensembl	rs398123716
geneview	rs398123716
scholar	rs398123716
google	rs398123716
pharmgkb	rs398123716
gwascentral	rs398123716
openSNP	rs398123716
23andMe	rs398123716
SNPshot	rs398123716
SNPdbe	rs398123716
MSV3d	rs398123716
GWAS Ctlg	rs398123716

Max Magnitude

0

ClinVar
Risk	rs398123716(-;-)
Alt	rs398123716(-;-)
Reference	Rs398123716(C;C)
Significance	Other
Disease	not provided Kabuki syndrome 1
Variation	info
Gene	KMT2D
CLNDBN	not provided Kabuki syndrome 1
Reversed	1
HGVS	NC_000012.11:g.49425456delG
CLNSRC	ClinVar
CLNACC	RCV000080127.3, RCV000177988.1,