rs587783718

Orientation

minus

Stabilized

minus

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

Make rs587783718(A;A)

Make rs587783718(A;G)

Reference

GRCh38.p2 38.2/144

Chromosome

12

Position

49046422

Gene

KMT2D

is a	snp
is	mentioned by
dbSNP	rs587783718
dbSNP (classic)	rs587783718
ClinGen	rs587783718
ebi	rs587783718
HLI	rs587783718
Exac	rs587783718
Gnomad	rs587783718
Varsome	rs587783718
LitVar	rs587783718
Map	rs587783718
PheGenI	rs587783718
Biobank	rs587783718
1000 genomes	rs587783718
hgdp	rs587783718
ensembl	rs587783718
geneview	rs587783718
scholar	rs587783718
google	rs587783718
pharmgkb	rs587783718
gwascentral	rs587783718
openSNP	rs587783718
23andMe	rs587783718
SNPshot	rs587783718
SNPdbe	rs587783718
MSV3d	rs587783718
GWAS Ctlg	rs587783718

Max Magnitude

0

ClinVar
Risk	rs587783718(A;A)
Alt	rs587783718(A;A)
Reference	Rs587783718(G;G)
Significance	Probable-Pathogenic
Disease	Kabuki syndrome 1 not specified
Variation	info
Gene	KMT2D
CLNDBN	Kabuki syndrome 1 not specified
Reversed	1
HGVS	NC_000012.11:g.49440205C>T
CLNSRC
CLNACC	RCV000146214.1, RCV000276560.1,