rs797045660

Orientation

minus

Stabilized

minus

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

Make rs797045660(-;T)

Make rs797045660(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

12

Position

49050633

Gene

KMT2D

is a	snp
is	mentioned by
dbSNP	rs797045660
dbSNP (classic)	rs797045660
ClinGen	rs797045660
ebi	rs797045660
HLI	rs797045660
Exac	rs797045660
Gnomad	rs797045660
Varsome	rs797045660
LitVar	rs797045660
Map	rs797045660
PheGenI	rs797045660
Biobank	rs797045660
1000 genomes	rs797045660
hgdp	rs797045660
ensembl	rs797045660
geneview	rs797045660
scholar	rs797045660
google	rs797045660
pharmgkb	rs797045660
gwascentral	rs797045660
openSNP	rs797045660
23andMe	rs797045660
SNPshot	rs797045660
SNPdbe	rs797045660
MSV3d	rs797045660
GWAS Ctlg	rs797045660

Max Magnitude

0

ClinVar
Risk	rs797045660(T;T)
Alt	rs797045660(T;T)
Reference	Rs797045660(-;-)
Significance	Pathogenic
Disease	Kabuki syndrome 1
Variation	info
Gene	KMT2D
CLNDBN	Kabuki syndrome 1
Reversed	1
HGVS	NC_000012.11:g.49444416_49444417insA
CLNSRC
CLNACC	RCV000193617.1,