rs797045667

Orientation

minus

Stabilized

minus

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

Make rs797045667(-;G)

Make rs797045667(G;G)

Reference

GRCh38.p2 38.2/146

Chromosome

12

Position

49044504

Gene

KMT2D

is a	snp
is	mentioned by
dbSNP	rs797045667
dbSNP (classic)	rs797045667
ClinGen	rs797045667
ebi	rs797045667
HLI	rs797045667
Exac	rs797045667
Gnomad	rs797045667
Varsome	rs797045667
LitVar	rs797045667
Map	rs797045667
PheGenI	rs797045667
Biobank	rs797045667
1000 genomes	rs797045667
hgdp	rs797045667
ensembl	rs797045667
geneview	rs797045667
scholar	rs797045667
google	rs797045667
pharmgkb	rs797045667
gwascentral	rs797045667
openSNP	rs797045667
23andMe	rs797045667
SNPshot	rs797045667
SNPdbe	rs797045667
MSV3d	rs797045667
GWAS Ctlg	rs797045667

Max Magnitude

0

ClinVar
Risk	rs797045667(G;G)
Alt	rs797045667(G;G)
Reference	Rs797045667(-;-)
Significance	Pathogenic
Disease	Kabuki syndrome 1
Variation	info
Gene	KMT2D
CLNDBN	Kabuki syndrome 1
Reversed	1
HGVS	NC_000012.11:g.49438288dupC
CLNSRC
CLNACC	RCV000193869.1,