rs397515320

Orientation

plus

Stabilized

plus

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

Make rs397515320(-;-)

Reference

GRCh38 38.1/141

Chromosome

6

Position

33442990

Gene

SYNGAP1

is a	snp
is	mentioned by
dbSNP	rs397515320
dbSNP (classic)	rs397515320
ClinGen	rs397515320
ebi	rs397515320
HLI	rs397515320
Exac	rs397515320
Gnomad	rs397515320
Varsome	rs397515320
LitVar	rs397515320
Map	rs397515320
PheGenI	rs397515320
Biobank	rs397515320
1000 genomes	rs397515320
hgdp	rs397515320
ensembl	rs397515320
geneview	rs397515320
scholar	rs397515320
google	rs397515320
pharmgkb	rs397515320
gwascentral	rs397515320
openSNP	rs397515320
23andMe	rs397515320
SNPshot	rs397515320
SNPdbe	rs397515320
MSV3d	rs397515320
GWAS Ctlg	rs397515320

Max Magnitude

8.8

ClinVar
Risk	rs397515320(-;-)
Alt	rs397515320(-;-)
Reference	Rs397515320(T;T)
Significance	Pathogenic
Disease	Mental retardation
Variation	info
Gene	SYNGAP1
CLNDBN	Mental retardation, autosomal dominant 5
Reversed	0
HGVS	NC_000006.11:g.33410767delT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000006766.3,