rs1057519067

Orientation

minus

Stabilized

minus

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

Make rs1057519067(-;-)

Make rs1057519067(-;ACAG)

Reference

GRCh38.p7 38.3/150

Chromosome

12

Position

49033227

Gene

KMT2D

is a	snp
is	mentioned by
dbSNP	rs1057519067
dbSNP (classic)	rs1057519067
ClinGen	rs1057519067
ebi	rs1057519067
HLI	rs1057519067
Exac	rs1057519067
Gnomad	rs1057519067
Varsome	rs1057519067
LitVar	rs1057519067
Map	rs1057519067
PheGenI	rs1057519067
Biobank	rs1057519067
1000 genomes	rs1057519067
hgdp	rs1057519067
ensembl	rs1057519067
geneview	rs1057519067
scholar	rs1057519067
google	rs1057519067
pharmgkb	rs1057519067
gwascentral	rs1057519067
openSNP	rs1057519067
23andMe	rs1057519067
SNPshot	rs1057519067
SNPdbe	rs1057519067
MSV3d	rs1057519067
GWAS Ctlg	rs1057519067

Max Magnitude

0

ClinVar
Risk	rs1057519067(-;-)
Alt	rs1057519067(-;-)
Reference	Rs1057519067(ACAG;ACAG)
Significance	Pathogenic
Disease	Kabuki syndrome 1
Variation	info
Gene	KMT2D
CLNDBN	Kabuki syndrome 1
Reversed	1
HGVS	NC_000012.11:g.49427010_49427013del4
CLNSRC
CLNACC	RCV000416323.1,