rs397515416

Orientation

minus

Stabilized

minus

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

Make rs397515416(A;G)

Make rs397515416(G;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

72495167

Gene

HDAC8

is a	snp
is	mentioned by
dbSNP	rs397515416
dbSNP (classic)	rs397515416
ClinGen	rs397515416
ebi	rs397515416
HLI	rs397515416
Exac	rs397515416
Gnomad	rs397515416
Varsome	rs397515416
LitVar	rs397515416
Map	rs397515416
PheGenI	rs397515416
Biobank	rs397515416
1000 genomes	rs397515416
hgdp	rs397515416
ensembl	rs397515416
geneview	rs397515416
scholar	rs397515416
google	rs397515416
pharmgkb	rs397515416
gwascentral	rs397515416
openSNP	rs397515416
23andMe	rs397515416
SNPshot	rs397515416
SNPdbe	rs397515416
MSV3d	rs397515416
GWAS Ctlg	rs397515416

Max Magnitude

0

ClinVar
Risk	rs397515416(G;G)
Alt	rs397515416(G;G)
Reference	Rs397515416(A;A)
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.71715017T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000032916.11,