rs1057518796

Orientation

plus

Stabilized

plus

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

Make rs1057518796(-;-)

Make rs1057518796(-;C)

Reference

GRCh38.p7 38.3/150

Chromosome

6

Position

33443752

Gene

SYNGAP1

is a	snp
is	mentioned by
dbSNP	rs1057518796
dbSNP (classic)	rs1057518796
ClinGen	rs1057518796
ebi	rs1057518796
HLI	rs1057518796
Exac	rs1057518796
Gnomad	rs1057518796
Varsome	rs1057518796
LitVar	rs1057518796
Map	rs1057518796
PheGenI	rs1057518796
Biobank	rs1057518796
1000 genomes	rs1057518796
hgdp	rs1057518796
ensembl	rs1057518796
geneview	rs1057518796
scholar	rs1057518796
google	rs1057518796
pharmgkb	rs1057518796
gwascentral	rs1057518796
openSNP	rs1057518796
23andMe	rs1057518796
SNPshot	rs1057518796
SNPdbe	rs1057518796
MSV3d	rs1057518796
GWAS Ctlg	rs1057518796

Max Magnitude

0

ClinVar
Risk	rs1057518796(-;-)
Alt	rs1057518796(-;-)
Reference	Rs1057518796(C;C)
Significance	Probable-Pathogenic
Disease	Absent speech Ataxia Global developmental delay
Variation	info
Gene	SYNGAP1
CLNDBN	Absent speech Ataxia Global developmental delay
Reversed	0
HGVS	NC_000006.11:g.33411529delC
CLNSRC
CLNACC	RCV000414895.1,