rs869312677

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;TTGGCAG)	8.8	Mental retardation, type 5; SYNGAP1-related
(TTGGCAG;TTGGCAG)	0	common in clinvar

Make rs869312677(-;-)

Reference

GRCh38.p2 38.2/147

Chromosome

6

Position

33446780

Gene

SYNGAP1

is a	snp
is	mentioned by
dbSNP	rs869312677
dbSNP (classic)	rs869312677
ClinGen	rs869312677
ebi	rs869312677
HLI	rs869312677
Exac	rs869312677
Gnomad	rs869312677
Varsome	rs869312677
LitVar	rs869312677
Map	rs869312677
PheGenI	rs869312677
Biobank	rs869312677
1000 genomes	rs869312677
hgdp	rs869312677
ensembl	rs869312677
geneview	rs869312677
scholar	rs869312677
google	rs869312677
pharmgkb	rs869312677
gwascentral	rs869312677
openSNP	rs869312677
23andMe	rs869312677
SNPshot	rs869312677
SNPdbe	rs869312677
MSV3d	rs869312677
GWAS Ctlg	rs869312677

Max Magnitude

8.8

ClinVar
Risk	rs869312677(-;-)
Alt	rs869312677(-;-)
Reference	Rs869312677(TTGGCAG;TTGGCAG)
Significance	Pathogenic
Disease	Mental retardation
Variation	info
Gene	SYNGAP1
CLNDBN	Mental retardation, autosomal dominant 5
Reversed	0
HGVS	NC_000006.11:g.33414557_33414563delTTGGCAG
CLNSRC
CLNACC	RCV000209949.1,