rs587783685

Orientation

minus

Stabilized

minus

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

Make rs587783685(C;T)

Make rs587783685(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

12

Position

49032113

Gene

KMT2D

is a	snp
is	mentioned by
dbSNP	rs587783685
dbSNP (classic)	rs587783685
ClinGen	rs587783685
ebi	rs587783685
HLI	rs587783685
Exac	rs587783685
Gnomad	rs587783685
Varsome	rs587783685
LitVar	rs587783685
Map	rs587783685
PheGenI	rs587783685
Biobank	rs587783685
1000 genomes	rs587783685
hgdp	rs587783685
ensembl	rs587783685
geneview	rs587783685
scholar	rs587783685
google	rs587783685
pharmgkb	rs587783685
gwascentral	rs587783685
openSNP	rs587783685
23andMe	rs587783685
SNPshot	rs587783685
SNPdbe	rs587783685
MSV3d	rs587783685
GWAS Ctlg	rs587783685

Max Magnitude

0

ClinVar
Risk	rs587783685(T;T)
Alt	rs587783685(T;T)
Reference	Rs587783685(C;C)
Significance	Pathogenic
Disease	Kabuki syndrome 1
Variation	info
Gene	KMT2D
CLNDBN	Kabuki syndrome 1
Reversed	1
HGVS	NC_000012.11:g.49425896G>A
CLNSRC
CLNACC	RCV000146159.1,