rs793888510

Orientation

plus

Stabilized

plus

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

Make rs793888510(C;C)

Make rs793888510(C;T)

Reference

GRCh38.p2 38.2/146

Chromosome

X

Position

45089932

Gene

KDM6A

is a	snp
is	mentioned by
dbSNP	rs793888510
dbSNP (classic)	rs793888510
ClinGen	rs793888510
ebi	rs793888510
HLI	rs793888510
Exac	rs793888510
Gnomad	rs793888510
Varsome	rs793888510
LitVar	rs793888510
Map	rs793888510
PheGenI	rs793888510
Biobank	rs793888510
1000 genomes	rs793888510
hgdp	rs793888510
ensembl	rs793888510
geneview	rs793888510
scholar	rs793888510
google	rs793888510
pharmgkb	rs793888510
gwascentral	rs793888510
openSNP	rs793888510
23andMe	rs793888510
SNPshot	rs793888510
SNPdbe	rs793888510
MSV3d	rs793888510
GWAS Ctlg	rs793888510

Max Magnitude

0

ClinVar
Risk	rs793888510(C;C)
Alt	rs793888510(C;C)
Reference	Rs793888510(T;T)
Significance	Probable-Pathogenic
Disease	Kabuki syndrome 2
Variation	info
Gene	KDM6A
CLNDBN	Kabuki syndrome 2
Reversed	0
HGVS	NC_000023.10:g.44949177T>C
CLNSRC
CLNACC	RCV000172946.1,