rs1057519395

Orientation

plus

Stabilized

plus

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

Make rs1057519395(-;-)

Make rs1057519395(-;TG)

Make rs1057519395(TG;TG)

Reference

GRCh38.p7 38.3/150

Chromosome

22

Position

50721862

Gene

SHANK3

is a	snp
is	mentioned by
dbSNP	rs1057519395
dbSNP (classic)	rs1057519395
ClinGen	rs1057519395
ebi	rs1057519395
HLI	rs1057519395
Exac	rs1057519395
Gnomad	rs1057519395
Varsome	rs1057519395
LitVar	rs1057519395
Map	rs1057519395
PheGenI	rs1057519395
Biobank	rs1057519395
1000 genomes	rs1057519395
hgdp	rs1057519395
ensembl	rs1057519395
geneview	rs1057519395
scholar	rs1057519395
google	rs1057519395
pharmgkb	rs1057519395
gwascentral	rs1057519395
openSNP	rs1057519395
23andMe	rs1057519395
SNPshot	rs1057519395
SNPdbe	rs1057519395
MSV3d	rs1057519395
GWAS Ctlg	rs1057519395

Max Magnitude

0

ClinVar
Risk	rs1057519395(-;-)
Alt	rs1057519395(-;-)
Reference	Rs1057519395(GT;GT)
Significance	Pathogenic
Disease	22q13.3 deletion syndrome
Variation	info
Gene	SHANK3
CLNDBN	22q13.3 deletion syndrome
Reversed	0
HGVS	NC_000022.10:g.51160290_51160291delTG
CLNSRC
CLNACC	RCV000417048.1,