rs1057516039

Orientation

minus

Stabilized

minus

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

Make rs1057516039(A;A)

Make rs1057516039(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

12

Position

49029400

Gene

KMT2D

is a	snp
is	mentioned by
dbSNP	rs1057516039
dbSNP (classic)	rs1057516039
ClinGen	rs1057516039
ebi	rs1057516039
HLI	rs1057516039
Exac	rs1057516039
Gnomad	rs1057516039
Varsome	rs1057516039
LitVar	rs1057516039
Map	rs1057516039
PheGenI	rs1057516039
Biobank	rs1057516039
1000 genomes	rs1057516039
hgdp	rs1057516039
ensembl	rs1057516039
geneview	rs1057516039
scholar	rs1057516039
google	rs1057516039
pharmgkb	rs1057516039
gwascentral	rs1057516039
openSNP	rs1057516039
23andMe	rs1057516039
SNPshot	rs1057516039
SNPdbe	rs1057516039
MSV3d	rs1057516039
GWAS Ctlg	rs1057516039

Max Magnitude

0

ClinVar
Risk	rs1057516039(A;A)
Alt	rs1057516039(A;A)
Reference	Rs1057516039(G;G)
Significance	Pathogenic
Disease	Kabuki syndrome 1
Variation	info
Gene	KMT2D
CLNDBN	Kabuki syndrome 1
Reversed	1
HGVS	NC_000012.11:g.49423183C>T
CLNSRC
CLNACC	RCV000408635.1,