rs727503987

Orientation

minus

Stabilized

minus

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

Make rs727503987(C;T)

Make rs727503987(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

12

Position

49049834

Gene

KMT2D

is a	snp
is	mentioned by
dbSNP	rs727503987
dbSNP (classic)	rs727503987
ClinGen	rs727503987
ebi	rs727503987
HLI	rs727503987
Exac	rs727503987
Gnomad	rs727503987
Varsome	rs727503987
LitVar	rs727503987
Map	rs727503987
PheGenI	rs727503987
Biobank	rs727503987
1000 genomes	rs727503987
hgdp	rs727503987
ensembl	rs727503987
geneview	rs727503987
scholar	rs727503987
google	rs727503987
pharmgkb	rs727503987
gwascentral	rs727503987
openSNP	rs727503987
23andMe	rs727503987
SNPshot	rs727503987
SNPdbe	rs727503987
MSV3d	rs727503987
GWAS Ctlg	rs727503987

Max Magnitude

0

ClinVar
Risk	rs727503987(T;T)
Alt	rs727503987(T;T)
Reference	Rs727503987(C;C)
Significance	Pathogenic
Disease	not provided Kabuki syndrome 1
Variation	info
Gene	KMT2D
CLNDBN	not provided Kabuki syndrome 1
Reversed	1
HGVS	NC_000012.11:g.49443617G>A
CLNSRC
CLNACC	RCV000153419.2, RCV000174080.1,