rs397514670

Orientation

plus

Stabilized

plus

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

Make rs397514670(T;T)

Reference

GRCh38 38.1/141

Chromosome

6

Position

33440737

Gene

SYNGAP1

is a	snp
is	mentioned by
dbSNP	rs397514670
dbSNP (classic)	rs397514670
ClinGen	rs397514670
ebi	rs397514670
HLI	rs397514670
Exac	rs397514670
Gnomad	rs397514670
Varsome	rs397514670
LitVar	rs397514670
Map	rs397514670
PheGenI	rs397514670
Biobank	rs397514670
1000 genomes	rs397514670
hgdp	rs397514670
ensembl	rs397514670
geneview	rs397514670
scholar	rs397514670
google	rs397514670
pharmgkb	rs397514670
gwascentral	rs397514670
openSNP	rs397514670
23andMe	rs397514670
SNPshot	rs397514670
SNPdbe	rs397514670
MSV3d	rs397514670
GWAS Ctlg	rs397514670

Max Magnitude

8.8

ClinVar
Risk	rs397514670(T;T)
Alt	rs397514670(T;T)
Reference	Rs397514670(C;C)
Significance	Pathogenic
Disease	Mental retardation not provided
Variation	info
Gene	SYNGAP1
CLNDBN	Mental retardation, autosomal dominant 5 not provided
Reversed	0
HGVS	NC_000006.11:g.33408514C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000034348.3, RCV000254832.1,