rs587783725

Orientation

minus

Stabilized

minus

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

Make rs587783725(-;-)

Make rs587783725(-;GGGGA)

Reference

GRCh38.p2 38.2/144

Chromosome

12

Position

49041096

Gene

KMT2D

is a	snp
is	mentioned by
dbSNP	rs587783725
dbSNP (classic)	rs587783725
ClinGen	rs587783725
ebi	rs587783725
HLI	rs587783725
Exac	rs587783725
Gnomad	rs587783725
Varsome	rs587783725
LitVar	rs587783725
Map	rs587783725
PheGenI	rs587783725
Biobank	rs587783725
1000 genomes	rs587783725
hgdp	rs587783725
ensembl	rs587783725
geneview	rs587783725
scholar	rs587783725
google	rs587783725
pharmgkb	rs587783725
gwascentral	rs587783725
openSNP	rs587783725
23andMe	rs587783725
SNPshot	rs587783725
SNPdbe	rs587783725
MSV3d	rs587783725
GWAS Ctlg	rs587783725

Max Magnitude

0

ClinVar
Risk	rs587783725(-;-)
Alt	rs587783725(-;-)
Reference	Rs587783725(GGGGA;GGGGA)
Significance	Pathogenic
Disease	Kabuki syndrome 1
Variation	info
Gene	KMT2D
CLNDBN	Kabuki syndrome 1
Reversed	1
HGVS	NC_000012.11:g.49434879_49434883delTCCCC
CLNSRC
CLNACC	RCV000146224.1,