rs587783703

Orientation

minus

Stabilized

minus

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

Make rs587783703(-;-)

Make rs587783703(-;AACT)

Reference

GRCh38.p2 38.2/144

Chromosome

12

Position

49022123

Gene

KMT2D

is a	snp
is	mentioned by
dbSNP	rs587783703
dbSNP (classic)	rs587783703
ClinGen	rs587783703
ebi	rs587783703
HLI	rs587783703
Exac	rs587783703
Gnomad	rs587783703
Varsome	rs587783703
LitVar	rs587783703
Map	rs587783703
PheGenI	rs587783703
Biobank	rs587783703
1000 genomes	rs587783703
hgdp	rs587783703
ensembl	rs587783703
geneview	rs587783703
scholar	rs587783703
google	rs587783703
pharmgkb	rs587783703
gwascentral	rs587783703
openSNP	rs587783703
23andMe	rs587783703
SNPshot	rs587783703
SNPdbe	rs587783703
MSV3d	rs587783703
GWAS Ctlg	rs587783703

Max Magnitude

0

ClinVar
Risk	rs587783703(-;-)
Alt	rs587783703(-;-)
Reference	Rs587783703(AACT;AACT)
Significance	Pathogenic
Disease	Kabuki syndrome 1
Variation	info
Gene	KMT2D
CLNDBN	Kabuki syndrome 1
Reversed	1
HGVS	NC_000012.11:g.49415906_49415909delAGTT
CLNSRC
CLNACC	RCV000146185.2,