rs794727342

Orientation

minus

Stabilized

minus

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

Make rs794727342(A;T)

Make rs794727342(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

12

Position

49044257

Gene

KMT2D

is a	snp
is	mentioned by
dbSNP	rs794727342
dbSNP (classic)	rs794727342
ClinGen	rs794727342
ebi	rs794727342
HLI	rs794727342
Exac	rs794727342
Gnomad	rs794727342
Varsome	rs794727342
LitVar	rs794727342
Map	rs794727342
PheGenI	rs794727342
Biobank	rs794727342
1000 genomes	rs794727342
hgdp	rs794727342
ensembl	rs794727342
geneview	rs794727342
scholar	rs794727342
google	rs794727342
pharmgkb	rs794727342
gwascentral	rs794727342
openSNP	rs794727342
23andMe	rs794727342
SNPshot	rs794727342
SNPdbe	rs794727342
MSV3d	rs794727342
GWAS Ctlg	rs794727342

Max Magnitude

0

ClinVar
Risk	rs794727342(T;T)
Alt	rs794727342(T;T)
Reference	Rs794727342(A;A)
Significance	Pathogenic
Disease	Kabuki syndrome 1
Variation	info
Gene	KMT2D
CLNDBN	Kabuki syndrome 1
Reversed	1
HGVS	NC_000012.11:g.49438040T>A
CLNSRC
CLNACC	RCV000176195.1,