rs886041116

Orientation

minus

Stabilized

minus

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

Chromosome

20

Position

50892526

Gene

ADNP

is a	snp
is	mentioned by
dbSNP	rs886041116
dbSNP (classic)	rs886041116
ClinGen	rs886041116
ebi	rs886041116
HLI	rs886041116
Exac	rs886041116
Gnomad	rs886041116
Varsome	rs886041116
LitVar	rs886041116
Map	rs886041116
PheGenI	rs886041116
Biobank	rs886041116
1000 genomes	rs886041116
hgdp	rs886041116
ensembl	rs886041116
geneview	rs886041116
scholar	rs886041116
google	rs886041116
pharmgkb	rs886041116
gwascentral	rs886041116
openSNP	rs886041116
23andMe	rs886041116
SNPshot	rs886041116
SNPdbe	rs886041116
MSV3d	rs886041116
GWAS Ctlg	rs886041116

Max Magnitude

0

ClinVar
Risk	rs886041116(T;T)
Alt	rs886041116(T;T)
Reference	Rs886041116(C;C)
Significance	Pathogenic
Disease	Helsmoortel-van der aa syndrome Abnormality of the teeth Agenesis of corpus callosum Aggressive behavior Global developmental delay Growth hormone deficiency Hypothyroidism Seizures Stereotypy
Variation	info
Gene	ADNP
CLNDBN	Helsmoortel-van der aa syndrome Abnormality of the teeth Agenesis of corpus callosum Aggressive behavior Global developmental delay Growth hormone deficiency Hypothyroidism Seizures Stereotypy
Reversed	1
HGVS	NC_000020.10:g.49509063G>A
CLNSRC
CLNACC	RCV000258940.1, RCV000414762.1,