rs1060503386

Orientation

plus

Stabilized

plus

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

Make rs1060503386(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

6

Position

33440913

Gene

SYNGAP1

is a	snp
is	mentioned by
dbSNP	rs1060503386
dbSNP (classic)	rs1060503386
ClinGen	rs1060503386
ebi	rs1060503386
HLI	rs1060503386
Exac	rs1060503386
Gnomad	rs1060503386
Varsome	rs1060503386
LitVar	rs1060503386
Map	rs1060503386
PheGenI	rs1060503386
Biobank	rs1060503386
1000 genomes	rs1060503386
hgdp	rs1060503386
ensembl	rs1060503386
geneview	rs1060503386
scholar	rs1060503386
google	rs1060503386
pharmgkb	rs1060503386
gwascentral	rs1060503386
openSNP	rs1060503386
23andMe	rs1060503386
SNPshot	rs1060503386
SNPdbe	rs1060503386
MSV3d	rs1060503386
GWAS Ctlg	rs1060503386

Max Magnitude

8.8

ClinVar
Risk	rs1060503386(T;T)
Alt	rs1060503386(T;T)
Reference	Rs1060503386(C;C)
Significance	Pathogenic
Disease	Mental retardation
Variation	info
Gene	SYNGAP1
CLNDBN	Mental retardation, autosomal dominant 5
Reversed	0
HGVS	NC_000006.11:g.33408690C>T
CLNSRC
CLNACC	RCV000470395.1,