rs267607238

Orientation

minus

Stabilized

minus

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

Make rs267607238(C;T)

Make rs267607238(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

49022301

Gene

KMT2D

is a	snp
is	mentioned by
dbSNP	rs267607238
dbSNP (classic)	rs267607238
ClinGen	rs267607238
ebi	rs267607238
HLI	rs267607238
Exac	rs267607238
Gnomad	rs267607238
Varsome	rs267607238
LitVar	rs267607238
Map	rs267607238
PheGenI	rs267607238
Biobank	rs267607238
1000 genomes	rs267607238
hgdp	rs267607238
ensembl	rs267607238
geneview	rs267607238
scholar	rs267607238
google	rs267607238
pharmgkb	rs267607238
gwascentral	rs267607238
openSNP	rs267607238
23andMe	rs267607238
SNPshot	rs267607238
SNPdbe	rs267607238
MSV3d	rs267607238
GWAS Ctlg	rs267607238

Max Magnitude

0

ClinVar
Risk	rs267607238(T;T)
Alt	rs267607238(T;T)
Reference	Rs267607238(C;C)
Significance	Pathogenic
Disease	Kabuki syndrome 1 not specified
Variation	info
Gene	KMT2D
CLNDBN	Kabuki syndrome 1 not specified
Reversed	1
HGVS	NC_000012.11:g.49416084G>A
CLNSRC	HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007975.7, RCV000153405.3,