rs587783702

Orientation

minus

Stabilized

minus

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

Make rs587783702(G;T)

Make rs587783702(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

12

Position

49022151

Gene

KMT2D

is a	snp
is	mentioned by
dbSNP	rs587783702
dbSNP (classic)	rs587783702
ClinGen	rs587783702
ebi	rs587783702
HLI	rs587783702
Exac	rs587783702
Gnomad	rs587783702
Varsome	rs587783702
LitVar	rs587783702
Map	rs587783702
PheGenI	rs587783702
Biobank	rs587783702
1000 genomes	rs587783702
hgdp	rs587783702
ensembl	rs587783702
geneview	rs587783702
scholar	rs587783702
google	rs587783702
pharmgkb	rs587783702
gwascentral	rs587783702
openSNP	rs587783702
23andMe	rs587783702
SNPshot	rs587783702
SNPdbe	rs587783702
MSV3d	rs587783702
GWAS Ctlg	rs587783702

Max Magnitude

0

ClinVar
Risk	rs587783702(T;T)
Alt	rs587783702(T;T)
Reference	Rs587783702(G;G)
Significance	Probable-Pathogenic
Disease	Kabuki syndrome 1
Variation	info
Gene	KMT2D
CLNDBN	Kabuki syndrome 1
Reversed	1
HGVS	NC_000012.11:g.49415934C>A
CLNSRC
CLNACC	RCV000146184.2,