rs35584294

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;-)	0	common in clinvar
(-;A)		Miscall in Ancestry data; otherwise, dominant mutation (Kabuki syndrome)

Make rs35584294(A;A)

Reference

GRCh38.p2 38.2/144

Chromosome

12

Position

49040288

Gene

KMT2D

is a	snp
is	mentioned by
dbSNP	rs35584294
dbSNP (classic)	rs35584294
ClinGen	rs35584294
ebi	rs35584294
HLI	rs35584294
Exac	rs35584294
Gnomad	rs35584294
Varsome	rs35584294
LitVar	rs35584294
Map	rs35584294
PheGenI	rs35584294
Biobank	rs35584294
1000 genomes	rs35584294
hgdp	rs35584294
ensembl	rs35584294
geneview	rs35584294
scholar	rs35584294
google	rs35584294
pharmgkb	rs35584294
gwascentral	rs35584294
openSNP	rs35584294
23andMe	rs35584294
SNPshot	rs35584294
SNPdbe	rs35584294
MSV3d	rs35584294
GWAS Ctlg	rs35584294

Max Magnitude

0

aka c.7481dupT (p.Ala2496Serfs)

ClinVar
Risk	rs35584294(A;A)
Alt	rs35584294(A;A)
Reference	Rs35584294(-;-)
Significance	Probable-Pathogenic
Disease	Kabuki syndrome 1
Variation	info
Gene	KMT2D
CLNDBN	Kabuki syndrome 1
Reversed	0
HGVS	NC_000012.11:g.49434072dupA
CLNSRC
CLNACC	RCV000172952.1,