rs587779380

Orientation

minus

Stabilized

minus

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

Make rs587779380(C;T)

Make rs587779380(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

X

Position

72567970

Gene

HDAC8

is a	snp
is	mentioned by
dbSNP	rs587779380
dbSNP (classic)	rs587779380
ClinGen	rs587779380
ebi	rs587779380
HLI	rs587779380
Exac	rs587779380
Gnomad	rs587779380
Varsome	rs587779380
LitVar	rs587779380
Map	rs587779380
PheGenI	rs587779380
Biobank	rs587779380
1000 genomes	rs587779380
hgdp	rs587779380
ensembl	rs587779380
geneview	rs587779380
scholar	rs587779380
google	rs587779380
pharmgkb	rs587779380
gwascentral	rs587779380
openSNP	rs587779380
23andMe	rs587779380
SNPshot	rs587779380
SNPdbe	rs587779380
MSV3d	rs587779380
GWAS Ctlg	rs587779380

Max Magnitude

0

ClinVar
Risk	rs587779380(T;T)
Alt	rs587779380(T;T)
Reference	Rs587779380(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.71787820G>A
CLNSRC
CLNACC	RCV000077779.2,