rs797045611

Orientation

minus

Stabilized

minus

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

Make rs797045611(C;T)

Make rs797045611(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

X

Position

72568820

Gene

HDAC8

is a	snp
is	mentioned by
dbSNP	rs797045611
dbSNP (classic)	rs797045611
ClinGen	rs797045611
ebi	rs797045611
HLI	rs797045611
Exac	rs797045611
Gnomad	rs797045611
Varsome	rs797045611
LitVar	rs797045611
Map	rs797045611
PheGenI	rs797045611
Biobank	rs797045611
1000 genomes	rs797045611
hgdp	rs797045611
ensembl	rs797045611
geneview	rs797045611
scholar	rs797045611
google	rs797045611
pharmgkb	rs797045611
gwascentral	rs797045611
openSNP	rs797045611
23andMe	rs797045611
SNPshot	rs797045611
SNPdbe	rs797045611
MSV3d	rs797045611
GWAS Ctlg	rs797045611

Max Magnitude

0

ClinVar
Risk	rs797045611(T;T)
Alt	rs797045611(T;T)
Reference	Rs797045611(C;C)
Significance	Pathogenic
Disease	Cornelia de Lange syndrome 5
Variation	info
Gene	HDAC8
CLNDBN	Cornelia de Lange syndrome 5
Reversed	1
HGVS	NC_000023.10:g.71788670G>A
CLNSRC
CLNACC	RCV000193465.1,