rs756471180

Orientation

plus

Stabilized

plus

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

Make rs756471180(-;C)

Make rs756471180(C;C)

Reference

GRCh38.p2 38.2/146

Chromosome

12

Position

49048032

Gene

KMT2D

is a	snp
is	mentioned by
dbSNP	rs756471180
dbSNP (classic)	rs756471180
ClinGen	rs756471180
ebi	rs756471180
HLI	rs756471180
Exac	rs756471180
Gnomad	rs756471180
Varsome	rs756471180
LitVar	rs756471180
Map	rs756471180
PheGenI	rs756471180
Biobank	rs756471180
1000 genomes	rs756471180
hgdp	rs756471180
ensembl	rs756471180
geneview	rs756471180
scholar	rs756471180
google	rs756471180
pharmgkb	rs756471180
gwascentral	rs756471180
openSNP	rs756471180
23andMe	rs756471180
SNPshot	rs756471180
SNPdbe	rs756471180
MSV3d	rs756471180
GWAS Ctlg	rs756471180

Max Magnitude

0

ClinVar
Risk	rs756471180(C;C)
Alt	rs756471180(C;C)
Reference	Rs756471180(-;-)
Significance	Pathogenic
Disease	Kabuki syndrome 1
Variation	info
Gene	KMT2D
CLNDBN	Kabuki syndrome 1
Reversed	0
HGVS	NC_000012.11:g.49441816dupC
CLNSRC
CLNACC	RCV000174739.1,