rs1057519595

Orientation

minus

Stabilized

minus

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

Make rs1057519595(-;-)

Make rs1057519595(-;T)

Reference

GRCh38.p7 38.3/150

Chromosome

12

Position

49050594

Gene

KMT2D

is a	snp
is	mentioned by
dbSNP	rs1057519595
dbSNP (classic)	rs1057519595
ClinGen	rs1057519595
ebi	rs1057519595
HLI	rs1057519595
Exac	rs1057519595
Gnomad	rs1057519595
Varsome	rs1057519595
LitVar	rs1057519595
Map	rs1057519595
PheGenI	rs1057519595
Biobank	rs1057519595
1000 genomes	rs1057519595
hgdp	rs1057519595
ensembl	rs1057519595
geneview	rs1057519595
scholar	rs1057519595
google	rs1057519595
pharmgkb	rs1057519595
gwascentral	rs1057519595
openSNP	rs1057519595
23andMe	rs1057519595
SNPshot	rs1057519595
SNPdbe	rs1057519595
MSV3d	rs1057519595
GWAS Ctlg	rs1057519595

Max Magnitude

0

ClinVar
Risk	rs1057519595(-;-)
Alt	rs1057519595(-;-)
Reference	Rs1057519595(T;T)
Significance	Pathogenic
Disease	Kabuki syndrome 1
Variation	info
Gene	KMT2D
CLNDBN	Kabuki syndrome 1
Reversed	1
HGVS	NC_000012.11:g.49444377delA
CLNSRC
CLNACC	RCV000417094.1,