rs869312674

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;G)	8.8	Mental retardation, type 5; SYNGAP1-related

Make rs869312674(A;A)

Reference

GRCh38.p2 38.2/147

Chromosome

6

Position

33446569

Gene

SYNGAP1

is a	snp
is	mentioned by
dbSNP	rs869312674
dbSNP (classic)	rs869312674
ClinGen	rs869312674
ebi	rs869312674
HLI	rs869312674
Exac	rs869312674
Gnomad	rs869312674
Varsome	rs869312674
LitVar	rs869312674
Map	rs869312674
PheGenI	rs869312674
Biobank	rs869312674
1000 genomes	rs869312674
hgdp	rs869312674
ensembl	rs869312674
geneview	rs869312674
scholar	rs869312674
google	rs869312674
pharmgkb	rs869312674
gwascentral	rs869312674
openSNP	rs869312674
23andMe	rs869312674
SNPshot	rs869312674
SNPdbe	rs869312674
MSV3d	rs869312674
GWAS Ctlg	rs869312674

Max Magnitude

8.8

ClinVar
Risk	rs869312674(A;A)
Alt	rs869312674(A;A)
Reference	Rs869312674(G;G)
Significance	Pathogenic
Disease	Mental retardation Intellectual disability
Variation	info
Gene	SYNGAP1
CLNDBN	Mental retardation, autosomal dominant 5 Intellectual disability
Reversed	0
HGVS	NC_000006.11:g.33414346G>A
CLNSRC
CLNACC	RCV000209920.1, RCV000224644.1,