rs587783719

Orientation

minus

Stabilized

minus

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

Make rs587783719(-;-)

Make rs587783719(-;C)

Reference

GRCh38.p2 38.2/144

Chromosome

12

Position

49045922

Gene

KMT2D

is a	snp
is	mentioned by
dbSNP	rs587783719
dbSNP (classic)	rs587783719
ClinGen	rs587783719
ebi	rs587783719
HLI	rs587783719
Exac	rs587783719
Gnomad	rs587783719
Varsome	rs587783719
LitVar	rs587783719
Map	rs587783719
PheGenI	rs587783719
Biobank	rs587783719
1000 genomes	rs587783719
hgdp	rs587783719
ensembl	rs587783719
geneview	rs587783719
scholar	rs587783719
google	rs587783719
pharmgkb	rs587783719
gwascentral	rs587783719
openSNP	rs587783719
23andMe	rs587783719
SNPshot	rs587783719
SNPdbe	rs587783719
MSV3d	rs587783719
GWAS Ctlg	rs587783719

Max Magnitude

0

ClinVar
Risk	rs587783719(-;-)
Alt	rs587783719(-;-)
Reference	Rs587783719(C;C)
Significance	Pathogenic
Disease	Kabuki syndrome 1
Variation	info
Gene	KMT2D
CLNDBN	Kabuki syndrome 1
Reversed	1
HGVS	NC_000012.11:g.49439705delG
CLNSRC
CLNACC	RCV000146215.1,