rs587777523

Orientation

plus

Stabilized

minus

Geno	Mag	Summary
(I;I)	0	common genotype
(TAAA;TAAA)	0	common in clinvar
(TAAAG;TAAAG)	0	common in clinvar
(TTTA;TTTA)	0	common in clinvar

Make rs587777523(-;-)

Make rs587777523(-;TTTA)

Reference

GRCh38 38.1/142

Chromosome

20

Position

50892215

Gene

ADNP

is a	snp
is	mentioned by
dbSNP	rs587777523
dbSNP (classic)	rs587777523
ClinGen	rs587777523
ebi	rs587777523
HLI	rs587777523
Exac	rs587777523
Gnomad	rs587777523
Varsome	rs587777523
LitVar	rs587777523
Map	rs587777523
PheGenI	rs587777523
Biobank	rs587777523
1000 genomes	rs587777523
hgdp	rs587777523
ensembl	rs587777523
geneview	rs587777523
scholar	rs587777523
google	rs587777523
pharmgkb	rs587777523
gwascentral	rs587777523
openSNP	rs587777523
23andMe	rs587777523
SNPshot	rs587777523
SNPdbe	rs587777523
MSV3d	rs587777523
GWAS Ctlg	rs587777523

Max Magnitude

0

ClinVar
Risk	Rs587777523(TTTA;TTTA) rs587777523(-;-)
Alt	Rs587777523(TTTA;TTTA) rs587777523(-;-)
Reference	Rs587777523(TAAA;TAAA)
Significance	Pathogenic
Disease	Helsmoortel-van der aa syndrome not provided
Variation	info
Gene	ADNP
CLNDBN	Helsmoortel-van der aa syndrome not provided
Reversed	1
HGVS	NC_000020.10:g.49508752_49508755delTTTA
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000128575.6, RCV000255626.1,