rs1060503383

Orientation

plus

Stabilized

plus

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

Make rs1060503383(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

6

Position

33441318

Gene

SYNGAP1

is a	snp
is	mentioned by
dbSNP	rs1060503383
dbSNP (classic)	rs1060503383
ClinGen	rs1060503383
ebi	rs1060503383
HLI	rs1060503383
Exac	rs1060503383
Gnomad	rs1060503383
Varsome	rs1060503383
LitVar	rs1060503383
Map	rs1060503383
PheGenI	rs1060503383
Biobank	rs1060503383
1000 genomes	rs1060503383
hgdp	rs1060503383
ensembl	rs1060503383
geneview	rs1060503383
scholar	rs1060503383
google	rs1060503383
pharmgkb	rs1060503383
gwascentral	rs1060503383
openSNP	rs1060503383
23andMe	rs1060503383
SNPshot	rs1060503383
SNPdbe	rs1060503383
MSV3d	rs1060503383
GWAS Ctlg	rs1060503383

Max Magnitude

8.8

ClinVar
Risk	rs1060503383(T;T)
Alt	rs1060503383(T;T)
Reference	Rs1060503383(C;C)
Significance	Pathogenic
Disease	Mental retardation
Variation	info
Gene	SYNGAP1
CLNDBN	Mental retardation, autosomal dominant 5
Reversed	0
HGVS	NC_000006.11:g.33409095C>T
CLNSRC
CLNACC	RCV000477576.1,