rs587783686

Orientation

minus

Stabilized

minus

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

Make rs587783686(-;-)

Make rs587783686(-;G)

Reference

GRCh38.p2 38.2/144

Chromosome

12

Position

49031809

Gene

KMT2D

is a	snp
is	mentioned by
dbSNP	rs587783686
dbSNP (classic)	rs587783686
ClinGen	rs587783686
ebi	rs587783686
HLI	rs587783686
Exac	rs587783686
Gnomad	rs587783686
Varsome	rs587783686
LitVar	rs587783686
Map	rs587783686
PheGenI	rs587783686
Biobank	rs587783686
1000 genomes	rs587783686
hgdp	rs587783686
ensembl	rs587783686
geneview	rs587783686
scholar	rs587783686
google	rs587783686
pharmgkb	rs587783686
gwascentral	rs587783686
openSNP	rs587783686
23andMe	rs587783686
SNPshot	rs587783686
SNPdbe	rs587783686
MSV3d	rs587783686
GWAS Ctlg	rs587783686

Max Magnitude

0

ClinVar
Risk	rs587783686(-;-)
Alt	rs587783686(-;-)
Reference	Rs587783686(G;G)
Significance	Pathogenic
Disease	Kabuki syndrome 1
Variation	info
Gene	KMT2D
CLNDBN	Kabuki syndrome 1
Reversed	1
HGVS	NC_000012.11:g.49425592delC
CLNSRC
CLNACC	RCV000146161.1,