rs587777524

Orientation

plus

Stabilized

plus

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

Make rs587777524(G;T)

Make rs587777524(T;T)

Reference

GRCh38 38.1/142

Chromosome

20

Position

50893503

Gene

ADNP

is a	snp
is	mentioned by
dbSNP	rs587777524
dbSNP (classic)	rs587777524
ClinGen	rs587777524
ebi	rs587777524
HLI	rs587777524
Exac	rs587777524
Gnomad	rs587777524
Varsome	rs587777524
LitVar	rs587777524
Map	rs587777524
PheGenI	rs587777524
Biobank	rs587777524
1000 genomes	rs587777524
hgdp	rs587777524
ensembl	rs587777524
geneview	rs587777524
scholar	rs587777524
google	rs587777524
pharmgkb	rs587777524
gwascentral	rs587777524
openSNP	rs587777524
23andMe	rs587777524
SNPshot	rs587777524
SNPdbe	rs587777524
MSV3d	rs587777524
GWAS Ctlg	rs587777524

Max Magnitude

0

ClinVar
Risk	rs587777524(A;A) rs587777524(C;C) rs587777524(T;T)
Alt	rs587777524(A;A) rs587777524(C;C) rs587777524(T;T)
Reference	Rs587777524(G;G)
Significance	Pathogenic
Disease	Helsmoortel-van der aa syndrome
Variation	info
Gene	ADNP
CLNDBN	Helsmoortel-van der aa syndrome
Reversed	0
HGVS	NC_000020.10:g.49510040G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000128576.5,