rs793888514

Orientation

minus

Stabilized

minus

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

Make rs793888514(-;-)

Make rs793888514(-;AATG)

Reference

GRCh38.p2 38.2/146

Chromosome

12

Position

49026728

Gene

KMT2D

is a	snp
is	mentioned by
dbSNP	rs793888514
dbSNP (classic)	rs793888514
ClinGen	rs793888514
ebi	rs793888514
HLI	rs793888514
Exac	rs793888514
Gnomad	rs793888514
Varsome	rs793888514
LitVar	rs793888514
Map	rs793888514
PheGenI	rs793888514
Biobank	rs793888514
1000 genomes	rs793888514
hgdp	rs793888514
ensembl	rs793888514
geneview	rs793888514
scholar	rs793888514
google	rs793888514
pharmgkb	rs793888514
gwascentral	rs793888514
openSNP	rs793888514
23andMe	rs793888514
SNPshot	rs793888514
SNPdbe	rs793888514
MSV3d	rs793888514
GWAS Ctlg	rs793888514

Max Magnitude

0

ClinVar
Risk	rs793888514(-;-)
Alt	rs793888514(-;-)
Reference	Rs793888514(AATG;AATG)
Significance	Probable-Pathogenic
Disease	Kabuki syndrome 1
Variation	info
Gene	KMT2D
CLNDBN	Kabuki syndrome 1
Reversed	1
HGVS	NC_000012.11:g.49420511_49420514delCATT
CLNSRC
CLNACC	RCV000172951.1,