rs587783688

Orientation

minus

Stabilized

minus

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

Make rs587783688(A;A)

Make rs587783688(A;C)

Reference

GRCh38.p2 38.2/144

Chromosome

12

Position

49031743

Gene

KMT2D

is a	snp
is	mentioned by
dbSNP	rs587783688
dbSNP (classic)	rs587783688
ClinGen	rs587783688
ebi	rs587783688
HLI	rs587783688
Exac	rs587783688
Gnomad	rs587783688
Varsome	rs587783688
LitVar	rs587783688
Map	rs587783688
PheGenI	rs587783688
Biobank	rs587783688
1000 genomes	rs587783688
hgdp	rs587783688
ensembl	rs587783688
geneview	rs587783688
scholar	rs587783688
google	rs587783688
pharmgkb	rs587783688
gwascentral	rs587783688
openSNP	rs587783688
23andMe	rs587783688
SNPshot	rs587783688
SNPdbe	rs587783688
MSV3d	rs587783688
GWAS Ctlg	rs587783688

Max Magnitude

0

ClinVar
Risk	rs587783688(A;A)
Alt	rs587783688(A;A)
Reference	Rs587783688(C;C)
Significance	Pathogenic
Disease	Kabuki syndrome 1
Variation	info
Gene	KMT2D
CLNDBN	Kabuki syndrome 1
Reversed	1
HGVS	NC_000012.11:g.49425526G>T
CLNSRC
CLNACC	RCV000146164.1,