rs1057519406

Orientation

plus

Stabilized

plus

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

Make rs1057519406(G;T)

Make rs1057519406(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

22

Position

50684651

Gene

SHANK3

is a	snp
is	mentioned by
dbSNP	rs1057519406
dbSNP (classic)	rs1057519406
ClinGen	rs1057519406
ebi	rs1057519406
HLI	rs1057519406
Exac	rs1057519406
Gnomad	rs1057519406
Varsome	rs1057519406
LitVar	rs1057519406
Map	rs1057519406
PheGenI	rs1057519406
Biobank	rs1057519406
1000 genomes	rs1057519406
hgdp	rs1057519406
ensembl	rs1057519406
geneview	rs1057519406
scholar	rs1057519406
google	rs1057519406
pharmgkb	rs1057519406
gwascentral	rs1057519406
openSNP	rs1057519406
23andMe	rs1057519406
SNPshot	rs1057519406
SNPdbe	rs1057519406
MSV3d	rs1057519406
GWAS Ctlg	rs1057519406

Max Magnitude

0

ClinVar
Risk	rs1057519406(T;T)
Alt	rs1057519406(T;T)
Reference	Rs1057519406(G;G)
Significance	Probable-Pathogenic
Disease	22q13.3 deletion syndrome
Variation	info
Gene	SHANK3
CLNDBN	22q13.3 deletion syndrome
Reversed	0
HGVS	NC_000022.10:g.51123079G>T
CLNSRC
CLNACC	RCV000417108.1,