rs121918315

Orientation

plus

Stabilized

plus

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

Make rs121918315(T;T)

Reference

GRCh38 38.1/141

Chromosome

6

Position

33432709

Gene

SYNGAP1

is a	snp
is	mentioned by
dbSNP	rs121918315
dbSNP (classic)	rs121918315
ClinGen	rs121918315
ebi	rs121918315
HLI	rs121918315
Exac	rs121918315
Gnomad	rs121918315
Varsome	rs121918315
LitVar	rs121918315
Map	rs121918315
PheGenI	rs121918315
Biobank	rs121918315
1000 genomes	rs121918315
hgdp	rs121918315
ensembl	rs121918315
geneview	rs121918315
scholar	rs121918315
google	rs121918315
pharmgkb	rs121918315
gwascentral	rs121918315
openSNP	rs121918315
23andMe	rs121918315
SNPshot	rs121918315
SNPdbe	rs121918315
MSV3d	rs121918315
GWAS Ctlg	rs121918315

Max Magnitude

8.8

OMIM	603384
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121918315(T;T)
Alt	rs121918315(T;T)
Reference	Rs121918315(A;A)
Significance	Pathogenic
Disease	Mental retardation
Variation	info
Gene	SYNGAP1
CLNDBN	Mental retardation, autosomal dominant 5
Reversed	0
HGVS	NC_000006.11:g.33400486A>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000006764.2,