rs797045643

Orientation

plus

Stabilized

plus

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

Make rs797045643(-;T)

Make rs797045643(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

X

Position

45076828

Gene

KDM6A

is a	snp
is	mentioned by
dbSNP	rs797045643
dbSNP (classic)	rs797045643
ClinGen	rs797045643
ebi	rs797045643
HLI	rs797045643
Exac	rs797045643
Gnomad	rs797045643
Varsome	rs797045643
LitVar	rs797045643
Map	rs797045643
PheGenI	rs797045643
Biobank	rs797045643
1000 genomes	rs797045643
hgdp	rs797045643
ensembl	rs797045643
geneview	rs797045643
scholar	rs797045643
google	rs797045643
pharmgkb	rs797045643
gwascentral	rs797045643
openSNP	rs797045643
23andMe	rs797045643
SNPshot	rs797045643
SNPdbe	rs797045643
MSV3d	rs797045643
GWAS Ctlg	rs797045643

Max Magnitude

0

ClinVar
Risk	rs797045643(T;T)
Alt	rs797045643(T;T)
Reference	Rs797045643(-;-)
Significance	Probable-Pathogenic
Disease	Kabuki syndrome 2
Variation	info
Gene	KDM6A
CLNDBN	Kabuki syndrome 2
Reversed	0
HGVS	NC_000023.10:g.44936073dupT
CLNSRC
CLNACC	RCV000194978.1,