rs587783713

Orientation

minus

Stabilized

minus

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

Make rs587783713(-;-)

Make rs587783713(-;C)

Reference

GRCh38.p2 38.2/144

Chromosome

12

Position

49049893

Gene

KMT2D

is a	snp
is	mentioned by
dbSNP	rs587783713
dbSNP (classic)	rs587783713
ClinGen	rs587783713
ebi	rs587783713
HLI	rs587783713
Exac	rs587783713
Gnomad	rs587783713
Varsome	rs587783713
LitVar	rs587783713
Map	rs587783713
PheGenI	rs587783713
Biobank	rs587783713
1000 genomes	rs587783713
hgdp	rs587783713
ensembl	rs587783713
geneview	rs587783713
scholar	rs587783713
google	rs587783713
pharmgkb	rs587783713
gwascentral	rs587783713
openSNP	rs587783713
23andMe	rs587783713
SNPshot	rs587783713
SNPdbe	rs587783713
MSV3d	rs587783713
GWAS Ctlg	rs587783713

Max Magnitude

0

ClinVar
Risk	rs587783713(-;-)
Alt	rs587783713(-;-)
Reference	Rs587783713(C;C)
Significance	Pathogenic
Disease	Kabuki syndrome 1
Variation	info
Gene	KMT2D
CLNDBN	Kabuki syndrome 1
Reversed	1
HGVS	NC_000012.11:g.49443676delG
CLNSRC
CLNACC	RCV000146202.1,