rs797046028

Orientation

plus

Stabilized

plus

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

Make rs797046028(-;-)

Reference

GRCh38.p2 38.2/146

Chromosome

6

Position

33438819

Gene	MIR5004, SYNGAP1

is a	snp
is	mentioned by
dbSNP	rs797046028
dbSNP (classic)	rs797046028
ClinGen	rs797046028
ebi	rs797046028
HLI	rs797046028
Exac	rs797046028
Gnomad	rs797046028
Varsome	rs797046028
LitVar	rs797046028
Map	rs797046028
PheGenI	rs797046028
Biobank	rs797046028
1000 genomes	rs797046028
hgdp	rs797046028
ensembl	rs797046028
geneview	rs797046028
scholar	rs797046028
google	rs797046028
pharmgkb	rs797046028
gwascentral	rs797046028
openSNP	rs797046028
23andMe	rs797046028
SNPshot	rs797046028
SNPdbe	rs797046028
MSV3d	rs797046028
GWAS Ctlg	rs797046028

Max Magnitude

8.8

aka c.1576delG (p.Val526Terfs)

ClinVar
Risk	rs797046028(-;-)
Alt	rs797046028(-;-)
Reference	Rs797046028(G;G)
Significance	Pathogenic
Disease	Mental retardation
Variation	info
Gene	MIR5004 SYNGAP1
CLNDBN	Mental retardation, autosomal dominant 5
Reversed	0
HGVS	NC_000006.11:g.33406596delG
CLNSRC
CLNACC	RCV000193516.1,