rs1057518183

Orientation

plus

Stabilized

plus

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

Make rs1057518183(-;-)

Reference

GRCh38.p7 38.3/150

Chromosome

6

Position

33438425

Gene	MIR5004, SYNGAP1

is a	snp
is	mentioned by
dbSNP	rs1057518183
dbSNP (classic)	rs1057518183
ClinGen	rs1057518183
ebi	rs1057518183
HLI	rs1057518183
Exac	rs1057518183
Gnomad	rs1057518183
Varsome	rs1057518183
LitVar	rs1057518183
Map	rs1057518183
PheGenI	rs1057518183
Biobank	rs1057518183
1000 genomes	rs1057518183
hgdp	rs1057518183
ensembl	rs1057518183
geneview	rs1057518183
scholar	rs1057518183
google	rs1057518183
pharmgkb	rs1057518183
gwascentral	rs1057518183
openSNP	rs1057518183
23andMe	rs1057518183
SNPshot	rs1057518183
SNPdbe	rs1057518183
MSV3d	rs1057518183
GWAS Ctlg	rs1057518183

Max Magnitude

8.8

ClinVar
Risk	rs1057518183(-;-)
Alt	rs1057518183(-;-)
Reference	Rs1057518183(C;C)
Significance	Pathogenic
Disease	not provided
Variation	info
Gene	MIR5004 SYNGAP1
CLNDBN	not provided
Reversed	0
HGVS	NC_000006.11:g.33406202delC
CLNSRC
CLNACC	RCV000413721.1,