rs1057518352

Orientation

plus

Stabilized

plus

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

Make rs1057518352(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

6

Position

33432787

Gene

SYNGAP1

is a	snp
is	mentioned by
dbSNP	rs1057518352
dbSNP (classic)	rs1057518352
ClinGen	rs1057518352
ebi	rs1057518352
HLI	rs1057518352
Exac	rs1057518352
Gnomad	rs1057518352
Varsome	rs1057518352
LitVar	rs1057518352
Map	rs1057518352
PheGenI	rs1057518352
Biobank	rs1057518352
1000 genomes	rs1057518352
hgdp	rs1057518352
ensembl	rs1057518352
geneview	rs1057518352
scholar	rs1057518352
google	rs1057518352
pharmgkb	rs1057518352
gwascentral	rs1057518352
openSNP	rs1057518352
23andMe	rs1057518352
SNPshot	rs1057518352
SNPdbe	rs1057518352
MSV3d	rs1057518352
GWAS Ctlg	rs1057518352

Max Magnitude

8.8

ClinVar
Risk	rs1057518352(T;T)
Alt	rs1057518352(T;T)
Reference	Rs1057518352(C;C)
Significance	Pathogenic
Disease	not provided
Variation	info
Gene	SYNGAP1
CLNDBN	not provided
Reversed	0
HGVS	NC_000006.11:g.33400564C>T
CLNSRC
CLNACC	RCV000412753.1,