rs587783728

Orientation

minus

Stabilized

minus

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

Make rs587783728(-;-)

Make rs587783728(-;CCAGC)

Reference

GRCh38.p2 38.2/144

Chromosome

12

Position

49039489

Gene

KMT2D

is a	snp
is	mentioned by
dbSNP	rs587783728
dbSNP (classic)	rs587783728
ClinGen	rs587783728
ebi	rs587783728
HLI	rs587783728
Exac	rs587783728
Gnomad	rs587783728
Varsome	rs587783728
LitVar	rs587783728
Map	rs587783728
PheGenI	rs587783728
Biobank	rs587783728
1000 genomes	rs587783728
hgdp	rs587783728
ensembl	rs587783728
geneview	rs587783728
scholar	rs587783728
google	rs587783728
pharmgkb	rs587783728
gwascentral	rs587783728
openSNP	rs587783728
23andMe	rs587783728
SNPshot	rs587783728
SNPdbe	rs587783728
MSV3d	rs587783728
GWAS Ctlg	rs587783728

Max Magnitude

0

ClinVar
Risk	rs587783728(-;-)
Alt	rs587783728(-;-)
Reference	Rs587783728(CCAGC;CCAGC)
Significance	Pathogenic
Disease	Kabuki syndrome 1
Variation	info
Gene	KMT2D
CLNDBN	Kabuki syndrome 1
Reversed	1
HGVS	NC_000012.11:g.49433272_49433276delGCTGG
CLNSRC
CLNACC	RCV000146238.1,