rs1057519400

Orientation

plus

Stabilized

plus

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

Make rs1057519400(-;-)

Reference

GRCh38.p7 38.3/150

Chromosome

6

Position

33440960

Gene

SYNGAP1

is a	snp
is	mentioned by
dbSNP	rs1057519400
dbSNP (classic)	rs1057519400
ClinGen	rs1057519400
ebi	rs1057519400
HLI	rs1057519400
Exac	rs1057519400
Gnomad	rs1057519400
Varsome	rs1057519400
LitVar	rs1057519400
Map	rs1057519400
PheGenI	rs1057519400
Biobank	rs1057519400
1000 genomes	rs1057519400
hgdp	rs1057519400
ensembl	rs1057519400
geneview	rs1057519400
scholar	rs1057519400
google	rs1057519400
pharmgkb	rs1057519400
gwascentral	rs1057519400
openSNP	rs1057519400
23andMe	rs1057519400
SNPshot	rs1057519400
SNPdbe	rs1057519400
MSV3d	rs1057519400
GWAS Ctlg	rs1057519400

Max Magnitude

8.8

ClinVar
Risk	rs1057519400(-;-)
Alt	rs1057519400(-;-)
Reference	Rs1057519400(TT;TT)
Significance	Pathogenic
Disease	Mental retardation
Variation	info
Gene	SYNGAP1
CLNDBN	Mental retardation, autosomal dominant 5
Reversed	0
HGVS	NC_000006.11:g.33408737_33408738delTT
CLNSRC
CLNACC	RCV000417100.1,