rs556669370

Orientation

plus

Stabilized

plus

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

Make rs556669370(A;A)

Make rs556669370(A;G)

Reference

GRCh38 38.1/142

Chromosome

12

Position

49041974

Gene

KMT2D

is a	snp
is	mentioned by
dbSNP	rs556669370
dbSNP (classic)	rs556669370
ClinGen	rs556669370
ebi	rs556669370
HLI	rs556669370
Exac	rs556669370
Gnomad	rs556669370
Varsome	rs556669370
LitVar	rs556669370
Map	rs556669370
PheGenI	rs556669370
Biobank	rs556669370
1000 genomes	rs556669370
hgdp	rs556669370
ensembl	rs556669370
geneview	rs556669370
scholar	rs556669370
google	rs556669370
pharmgkb	rs556669370
gwascentral	rs556669370
openSNP	rs556669370
23andMe	rs556669370
SNPshot	rs556669370
SNPdbe	rs556669370
MSV3d	rs556669370
GWAS Ctlg	rs556669370

Max Magnitude

0

ClinVar
Risk	rs556669370(A;A) rs556669370(T;T)
Alt	rs556669370(A;A) rs556669370(T;T)
Reference	Rs556669370(G;G)
Significance	Pathogenic
Disease	Kabuki syndrome 1
Variation	info
Gene	KMT2D
CLNDBN	Kabuki syndrome 1
Reversed	0
HGVS	NC_000012.11:g.49435757G>T
CLNSRC	ClinVar University of Chicago
CLNACC	RCV000146220.1,