rs587783715

Orientation

minus

Stabilized

minus

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

Make rs587783715(-;-)

Make rs587783715(-;C)

Reference

GRCh38.p2 38.2/144

Chromosome

12

Position

49047980

Gene

KMT2D

is a	snp
is	mentioned by
dbSNP	rs587783715
dbSNP (classic)	rs587783715
ClinGen	rs587783715
ebi	rs587783715
HLI	rs587783715
Exac	rs587783715
Gnomad	rs587783715
Varsome	rs587783715
LitVar	rs587783715
Map	rs587783715
PheGenI	rs587783715
Biobank	rs587783715
1000 genomes	rs587783715
hgdp	rs587783715
ensembl	rs587783715
geneview	rs587783715
scholar	rs587783715
google	rs587783715
pharmgkb	rs587783715
gwascentral	rs587783715
openSNP	rs587783715
23andMe	rs587783715
SNPshot	rs587783715
SNPdbe	rs587783715
MSV3d	rs587783715
GWAS Ctlg	rs587783715

Max Magnitude

0

ClinVar
Risk	rs587783715(-;-)
Alt	rs587783715(-;-)
Reference	Rs587783715(C;C)
Significance	Pathogenic
Disease	Kabuki syndrome 1
Variation	info
Gene	KMT2D
CLNDBN	Kabuki syndrome 1
Reversed	1
HGVS	NC_000012.11:g.49441763delG
CLNSRC
CLNACC	RCV000146211.1,