rs397514741

Orientation

plus

Stabilized

plus

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

Make rs397514741(T;T)

Reference

GRCh38 38.1/141

Chromosome

6

Position

33432724

Gene

SYNGAP1

is a	snp
is	mentioned by
dbSNP	rs397514741
dbSNP (classic)	rs397514741
ClinGen	rs397514741
ebi	rs397514741
HLI	rs397514741
Exac	rs397514741
Gnomad	rs397514741
Varsome	rs397514741
LitVar	rs397514741
Map	rs397514741
PheGenI	rs397514741
Biobank	rs397514741
1000 genomes	rs397514741
hgdp	rs397514741
ensembl	rs397514741
geneview	rs397514741
scholar	rs397514741
google	rs397514741
pharmgkb	rs397514741
gwascentral	rs397514741
openSNP	rs397514741
23andMe	rs397514741
SNPshot	rs397514741
SNPdbe	rs397514741
MSV3d	rs397514741
GWAS Ctlg	rs397514741

Max Magnitude

8.8

ClinVar
Risk	rs397514741(T;T)
Alt	rs397514741(T;T)
Reference	Rs397514741(C;C)
Significance	Pathogenic
Disease	Mental retardation
Variation	info
Gene	SYNGAP1
CLNDBN	Mental retardation, autosomal dominant 5
Reversed	0
HGVS	NC_000006.11:g.33400501C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000054513.2,