rs587779766

Orientation

minus

Stabilized

minus

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

Make rs587779766(-;-)

Make rs587779766(-;TG)

Reference

GRCh38.p2 38.2/144

Chromosome

1

Position

27549742

Gene

AHDC1

is a	snp
is	mentioned by
dbSNP	rs587779766
dbSNP (classic)	rs587779766
ClinGen	rs587779766
ebi	rs587779766
HLI	rs587779766
Exac	rs587779766
Gnomad	rs587779766
Varsome	rs587779766
LitVar	rs587779766
Map	rs587779766
PheGenI	rs587779766
Biobank	rs587779766
1000 genomes	rs587779766
hgdp	rs587779766
ensembl	rs587779766
geneview	rs587779766
scholar	rs587779766
google	rs587779766
pharmgkb	rs587779766
gwascentral	rs587779766
openSNP	rs587779766
23andMe	rs587779766
SNPshot	rs587779766
SNPdbe	rs587779766
MSV3d	rs587779766
GWAS Ctlg	rs587779766

Max Magnitude

0

ClinVar
Risk	rs587779766(-;-)
Alt	rs587779766(-;-)
Reference	Rs587779766(TG;TG)
Significance	Pathogenic
Disease	Xia-Gibbs syndrome Delayed speech and language development Global developmental delay Intellectual disability Neonatal hypotonia Sleep apnea not provided Muscular hypotonia
Variation	info
Gene	AHDC1
CLNDBN	Xia-Gibbs syndrome Delayed speech and language development Global developmental delay Intellectual disability Neonatal hypotonia Sleep apnea not provided Muscular hypotonia
Reversed	1
HGVS	NC_000001.10:g.27876253_27876254delCA
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000119838.2, RCV000144167.1, RCV000190364.2, RCV000235041.1,