rs121918316

Orientation

plus

Stabilized

plus

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

Make rs121918316(T;T)

Reference

GRCh38 38.1/141

Chromosome

6

Position

33440787

Gene

SYNGAP1

is a	snp
is	mentioned by
dbSNP	rs121918316
dbSNP (classic)	rs121918316
ClinGen	rs121918316
ebi	rs121918316
HLI	rs121918316
Exac	rs121918316
Gnomad	rs121918316
Varsome	rs121918316
LitVar	rs121918316
Map	rs121918316
PheGenI	rs121918316
Biobank	rs121918316
1000 genomes	rs121918316
hgdp	rs121918316
ensembl	rs121918316
geneview	rs121918316
scholar	rs121918316
google	rs121918316
pharmgkb	rs121918316
gwascentral	rs121918316
openSNP	rs121918316
23andMe	rs121918316
SNPshot	rs121918316
SNPdbe	rs121918316
MSV3d	rs121918316
GWAS Ctlg	rs121918316

Max Magnitude

8.8

OMIM	603384
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121918316(T;T)
Alt	rs121918316(T;T)
Reference	Rs121918316(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.33408564C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000006765.2, RCV000255371.1,