rs797045658

Orientation

minus

Stabilized

minus

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

Make rs797045658(C;T)

Make rs797045658(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

12

Position

49032860

Gene

KMT2D

is a	snp
is	mentioned by
dbSNP	rs797045658
dbSNP (classic)	rs797045658
ClinGen	rs797045658
ebi	rs797045658
HLI	rs797045658
Exac	rs797045658
Gnomad	rs797045658
Varsome	rs797045658
LitVar	rs797045658
Map	rs797045658
PheGenI	rs797045658
Biobank	rs797045658
1000 genomes	rs797045658
hgdp	rs797045658
ensembl	rs797045658
geneview	rs797045658
scholar	rs797045658
google	rs797045658
pharmgkb	rs797045658
gwascentral	rs797045658
openSNP	rs797045658
23andMe	rs797045658
SNPshot	rs797045658
SNPdbe	rs797045658
MSV3d	rs797045658
GWAS Ctlg	rs797045658

Max Magnitude

0

ClinVar
Risk	rs797045658(T;T)
Alt	rs797045658(T;T)
Reference	Rs797045658(C;C)
Significance	Pathogenic
Disease	Kabuki syndrome 1
Variation	info
Gene	KMT2D
CLNDBN	Kabuki syndrome 1
Reversed	1
HGVS	NC_000012.11:g.49426643G>A
CLNSRC
CLNACC	RCV000194043.1,