rs587783692

Orientation

minus

Stabilized

minus

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

Make rs587783692(C;T)

Make rs587783692(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

12

Position

49030958

Gene

KMT2D

is a	snp
is	mentioned by
dbSNP	rs587783692
dbSNP (classic)	rs587783692
ClinGen	rs587783692
ebi	rs587783692
HLI	rs587783692
Exac	rs587783692
Gnomad	rs587783692
Varsome	rs587783692
LitVar	rs587783692
Map	rs587783692
PheGenI	rs587783692
Biobank	rs587783692
1000 genomes	rs587783692
hgdp	rs587783692
ensembl	rs587783692
geneview	rs587783692
scholar	rs587783692
google	rs587783692
pharmgkb	rs587783692
gwascentral	rs587783692
openSNP	rs587783692
23andMe	rs587783692
SNPshot	rs587783692
SNPdbe	rs587783692
MSV3d	rs587783692
GWAS Ctlg	rs587783692

Max Magnitude

0

ClinVar
Risk	rs587783692(T;T)
Alt	rs587783692(T;T)
Reference	Rs587783692(C;C)
Significance	Pathogenic
Disease	Kabuki syndrome 1
Variation	info
Gene	KMT2D
CLNDBN	Kabuki syndrome 1
Reversed	1
HGVS	NC_000012.11:g.49424741G>A
CLNSRC
CLNACC	RCV000146170.2,