rs1057516037

Orientation

minus

Stabilized

minus

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

Make rs1057516037(CTCCA;GT)

Make rs1057516037(GT;GT)

Reference

GRCh38.p7 38.3/150

Chromosome

X

Position

72464626

Gene

HDAC8

is a	snp
is	mentioned by
dbSNP	rs1057516037
dbSNP (classic)	rs1057516037
ClinGen	rs1057516037
ebi	rs1057516037
HLI	rs1057516037
Exac	rs1057516037
Gnomad	rs1057516037
Varsome	rs1057516037
LitVar	rs1057516037
Map	rs1057516037
PheGenI	rs1057516037
Biobank	rs1057516037
1000 genomes	rs1057516037
hgdp	rs1057516037
ensembl	rs1057516037
geneview	rs1057516037
scholar	rs1057516037
google	rs1057516037
pharmgkb	rs1057516037
gwascentral	rs1057516037
openSNP	rs1057516037
23andMe	rs1057516037
SNPshot	rs1057516037
SNPdbe	rs1057516037
MSV3d	rs1057516037
GWAS Ctlg	rs1057516037

Max Magnitude

0

ClinVar
Risk	rs1057516037(GT;GT)
Alt	rs1057516037(GT;GT)
Reference	Rs1057516037(CTCCA;CTCCA)
Significance	Probable-Pathogenic
Disease	Cornelia de Lange syndrome 5
Variation	info
Gene	HDAC8
CLNDBN	Cornelia de Lange syndrome 5
Reversed	1
HGVS	NC_000023.10:g.71684476_71684480delTGGAGinsAC
CLNSRC
CLNACC	RCV000408608.1,