rs587783723

Orientation

minus

Stabilized

minus

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

Make rs587783723(-;-)

Make rs587783723(-;C)

Reference

GRCh38.p2 38.2/144

Chromosome

12

Position

49042112

Gene

KMT2D

is a	snp
is	mentioned by
dbSNP	rs587783723
dbSNP (classic)	rs587783723
ClinGen	rs587783723
ebi	rs587783723
HLI	rs587783723
Exac	rs587783723
Gnomad	rs587783723
Varsome	rs587783723
LitVar	rs587783723
Map	rs587783723
PheGenI	rs587783723
Biobank	rs587783723
1000 genomes	rs587783723
hgdp	rs587783723
ensembl	rs587783723
geneview	rs587783723
scholar	rs587783723
google	rs587783723
pharmgkb	rs587783723
gwascentral	rs587783723
openSNP	rs587783723
23andMe	rs587783723
SNPshot	rs587783723
SNPdbe	rs587783723
MSV3d	rs587783723
GWAS Ctlg	rs587783723

Max Magnitude

0

ClinVar
Risk	rs587783723(-;-)
Alt	rs587783723(-;-)
Reference	Rs587783723(C;C)
Significance	Pathogenic
Disease	Kabuki syndrome 1
Variation	info
Gene	KMT2D
CLNDBN	Kabuki syndrome 1
Reversed	1
HGVS	NC_000012.11:g.49435895delG
CLNSRC
CLNACC	RCV000146219.1,