rs797045669

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in clinvar
(I;I)	0	common genotype

Make rs797045669(-;-)

Make rs797045669(-;G)

Reference

GRCh38.p2 38.2/146

Chromosome

12

Position

49041928

Gene

KMT2D

is a	snp
is	mentioned by
dbSNP	rs797045669
dbSNP (classic)	rs797045669
ClinGen	rs797045669
ebi	rs797045669
HLI	rs797045669
Exac	rs797045669
Gnomad	rs797045669
Varsome	rs797045669
LitVar	rs797045669
Map	rs797045669
PheGenI	rs797045669
Biobank	rs797045669
1000 genomes	rs797045669
hgdp	rs797045669
ensembl	rs797045669
geneview	rs797045669
scholar	rs797045669
google	rs797045669
pharmgkb	rs797045669
gwascentral	rs797045669
openSNP	rs797045669
23andMe	rs797045669
SNPshot	rs797045669
SNPdbe	rs797045669
MSV3d	rs797045669
GWAS Ctlg	rs797045669

Max Magnitude

0

ClinVar
Risk	rs797045669(-;-)
Alt	rs797045669(-;-)
Reference	Rs797045669(G;G)
Significance	Pathogenic
Disease	Kabuki syndrome 1
Variation	info
Gene	KMT2D
CLNDBN	Kabuki syndrome 1
Reversed	1
HGVS	NC_000012.11:g.49435711delC
CLNSRC
CLNACC	RCV000193310.1,