rs587783695

Orientation

minus

Stabilized

minus

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

Make rs587783695(C;T)

Make rs587783695(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

12

Position

49026905

Gene

KMT2D

is a	snp
is	mentioned by
dbSNP	rs587783695
dbSNP (classic)	rs587783695
ClinGen	rs587783695
ebi	rs587783695
HLI	rs587783695
Exac	rs587783695
Gnomad	rs587783695
Varsome	rs587783695
LitVar	rs587783695
Map	rs587783695
PheGenI	rs587783695
Biobank	rs587783695
1000 genomes	rs587783695
hgdp	rs587783695
ensembl	rs587783695
geneview	rs587783695
scholar	rs587783695
google	rs587783695
pharmgkb	rs587783695
gwascentral	rs587783695
openSNP	rs587783695
23andMe	rs587783695
SNPshot	rs587783695
SNPdbe	rs587783695
MSV3d	rs587783695
GWAS Ctlg	rs587783695

Max Magnitude

0

ClinVar
Risk	rs587783695(T;T)
Alt	rs587783695(T;T)
Reference	Rs587783695(C;C)
Significance	Pathogenic
Disease	Kabuki syndrome 1 not provided
Variation	info
Gene	KMT2D
CLNDBN	Kabuki syndrome 1 not provided
Reversed	1
HGVS	NC_000012.11:g.49420688G>A
CLNSRC	HGMD
CLNACC	RCV000146174.2, RCV000153408.2,