rs587783000

Orientation

plus

Stabilized

plus

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

Make rs587783000(-;-)

Make rs587783000(-;TCG)

Reference

GRCh38.p2 38.2/144

Chromosome

5

Position

140114444

Gene

PURA

is a	snp
is	mentioned by
dbSNP	rs587783000
dbSNP (classic)	rs587783000
ClinGen	rs587783000
ebi	rs587783000
HLI	rs587783000
Exac	rs587783000
Gnomad	rs587783000
Varsome	rs587783000
LitVar	rs587783000
Map	rs587783000
PheGenI	rs587783000
Biobank	rs587783000
1000 genomes	rs587783000
hgdp	rs587783000
ensembl	rs587783000
geneview	rs587783000
scholar	rs587783000
google	rs587783000
pharmgkb	rs587783000
gwascentral	rs587783000
openSNP	rs587783000
23andMe	rs587783000
SNPshot	rs587783000
SNPdbe	rs587783000
MSV3d	rs587783000
GWAS Ctlg	rs587783000

Max Magnitude

0

ClinVar
Risk	rs587783000(-;-)
Alt	rs587783000(-;-)
Reference	Rs587783000(TCG;TCG)
Significance	Pathogenic
Disease	Delayed speech and language development Global developmental delay Intellectual disability Neonatal hypotonia Seizures
Variation	info
Gene	PURA
CLNDBN	Delayed speech and language development Global developmental delay Intellectual disability Neonatal hypotonia Seizures
Reversed	0
HGVS	NC_000005.9:g.139494029_139494031delTCG
CLNSRC
CLNACC	RCV000144530.1,