rs793888511

Orientation

minus

Stabilized

minus

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

Make rs793888511(C;T)

Make rs793888511(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

12

Position

49032017

Gene

KMT2D

is a	snp
is	mentioned by
dbSNP	rs793888511
dbSNP (classic)	rs793888511
ClinGen	rs793888511
ebi	rs793888511
HLI	rs793888511
Exac	rs793888511
Gnomad	rs793888511
Varsome	rs793888511
LitVar	rs793888511
Map	rs793888511
PheGenI	rs793888511
Biobank	rs793888511
1000 genomes	rs793888511
hgdp	rs793888511
ensembl	rs793888511
geneview	rs793888511
scholar	rs793888511
google	rs793888511
pharmgkb	rs793888511
gwascentral	rs793888511
openSNP	rs793888511
23andMe	rs793888511
SNPshot	rs793888511
SNPdbe	rs793888511
MSV3d	rs793888511
GWAS Ctlg	rs793888511

Max Magnitude

0

ClinVar
Risk	rs793888511(T;T)
Alt	rs793888511(T;T)
Reference	Rs793888511(C;C)
Significance	Probable-Pathogenic
Disease	Kabuki syndrome 1
Variation	info
Gene	KMT2D
CLNDBN	Kabuki syndrome 1
Reversed	1
HGVS	NC_000012.11:g.49425800G>A
CLNSRC
CLNACC	RCV000172947.1,