rs1057518786

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs1057518786(A;A)

Make rs1057518786(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

6

Position

33441374

Gene

SYNGAP1

is a	snp
is	mentioned by
dbSNP	rs1057518786
dbSNP (classic)	rs1057518786
ClinGen	rs1057518786
ebi	rs1057518786
HLI	rs1057518786
Exac	rs1057518786
Gnomad	rs1057518786
Varsome	rs1057518786
LitVar	rs1057518786
Map	rs1057518786
PheGenI	rs1057518786
Biobank	rs1057518786
1000 genomes	rs1057518786
hgdp	rs1057518786
ensembl	rs1057518786
geneview	rs1057518786
scholar	rs1057518786
google	rs1057518786
pharmgkb	rs1057518786
gwascentral	rs1057518786
openSNP	rs1057518786
23andMe	rs1057518786
SNPshot	rs1057518786
SNPdbe	rs1057518786
MSV3d	rs1057518786
GWAS Ctlg	rs1057518786

Max Magnitude

0

ClinVar
Risk	rs1057518786(A;A)
Alt	rs1057518786(A;A)
Reference	Rs1057518786(G;G)
Significance	Probable-Pathogenic
Disease	Delayed speech and language development Generalized hypotonia Global developmental delay Preauricular skin tag Stereotypy
Variation	info
Gene	SYNGAP1
CLNDBN	Delayed speech and language development Generalized hypotonia Global developmental delay Preauricular skin tag Stereotypy
Reversed	0
HGVS	NC_000006.11:g.33409151G>A
CLNSRC
CLNACC	RCV000415313.1,