rs1057519444

Orientation

minus

Stabilized

minus

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

Make rs1057519444(CC;TT)

Make rs1057519444(TT;TT)

Reference

GRCh38.p7 38.3/150

Chromosome

22

Position

32518208

Gene

SYN3

is a	snp
is	mentioned by
dbSNP	rs1057519444
dbSNP (classic)	rs1057519444
ClinGen	rs1057519444
ebi	rs1057519444
HLI	rs1057519444
Exac	rs1057519444
Gnomad	rs1057519444
Varsome	rs1057519444
LitVar	rs1057519444
Map	rs1057519444
PheGenI	rs1057519444
Biobank	rs1057519444
1000 genomes	rs1057519444
hgdp	rs1057519444
ensembl	rs1057519444
geneview	rs1057519444
scholar	rs1057519444
google	rs1057519444
pharmgkb	rs1057519444
gwascentral	rs1057519444
openSNP	rs1057519444
23andMe	rs1057519444
SNPshot	rs1057519444
SNPdbe	rs1057519444
MSV3d	rs1057519444
GWAS Ctlg	rs1057519444

Max Magnitude

0

ClinVar
Risk	rs1057519444(TT;TT)
Alt	rs1057519444(TT;TT)
Reference	Rs1057519444(CC;CC)
Significance	Pathogenic
Disease	Cerebellar vermis atrophy Generalized hypotonia Global developmental delay Seizures Visual impairment
Variation	info
Gene	SYN3
CLNDBN	Cerebellar vermis atrophy Generalized hypotonia Global developmental delay Seizures Visual impairment
Reversed	1
HGVS	NC_000022.10:g.32914195_32914196delGGinsAA
CLNSRC
CLNACC	RCV000416436.1,