rs587783696

Orientation

minus

Stabilized

minus

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

Make rs587783696(A;A)

Make rs587783696(A;G)

Reference

GRCh38.p2 38.2/144

Chromosome

12

Position

49026771

Gene

KMT2D

is a	snp
is	mentioned by
dbSNP	rs587783696
dbSNP (classic)	rs587783696
ClinGen	rs587783696
ebi	rs587783696
HLI	rs587783696
Exac	rs587783696
Gnomad	rs587783696
Varsome	rs587783696
LitVar	rs587783696
Map	rs587783696
PheGenI	rs587783696
Biobank	rs587783696
1000 genomes	rs587783696
hgdp	rs587783696
ensembl	rs587783696
geneview	rs587783696
scholar	rs587783696
google	rs587783696
pharmgkb	rs587783696
gwascentral	rs587783696
openSNP	rs587783696
23andMe	rs587783696
SNPshot	rs587783696
SNPdbe	rs587783696
MSV3d	rs587783696
GWAS Ctlg	rs587783696

Max Magnitude

0

ClinVar
Risk	rs587783696(A;A)
Alt	rs587783696(A;A)
Reference	Rs587783696(G;G)
Significance	Pathogenic
Disease	Kabuki syndrome 1
Variation	info
Gene	KMT2D
CLNDBN	Kabuki syndrome 1
Reversed	1
HGVS	NC_000012.11:g.49420554C>T
CLNSRC
CLNACC	RCV000146175.1,