rs1057516284

Orientation

plus

Stabilized

plus

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

Make rs1057516284(CAAA;TGT)

Make rs1057516284(TGT;TGT)

Reference

GRCh38.p7 38.3/150

Chromosome

8

Position

99870863

Gene

VPS13B

is a	snp
is	mentioned by
dbSNP	rs1057516284
dbSNP (classic)	rs1057516284
ClinGen	rs1057516284
ebi	rs1057516284
HLI	rs1057516284
Exac	rs1057516284
Gnomad	rs1057516284
Varsome	rs1057516284
LitVar	rs1057516284
Map	rs1057516284
PheGenI	rs1057516284
Biobank	rs1057516284
1000 genomes	rs1057516284
hgdp	rs1057516284
ensembl	rs1057516284
geneview	rs1057516284
scholar	rs1057516284
google	rs1057516284
pharmgkb	rs1057516284
gwascentral	rs1057516284
openSNP	rs1057516284
23andMe	rs1057516284
SNPshot	rs1057516284
SNPdbe	rs1057516284
MSV3d	rs1057516284
GWAS Ctlg	rs1057516284

Max Magnitude

0

ClinVar
Risk	rs1057516284(TGT;TGT)
Alt	rs1057516284(TGT;TGT)
Reference	Rs1057516284(CAAA;CAAA)
Significance	Probable-Pathogenic
Disease	Cohen syndrome
Variation	info
Gene	VPS13B
CLNDBN	Cohen syndrome
Reversed	0
HGVS	NC_000008.10:g.100883091_100883094delCAAAinsTGT
CLNSRC
CLNACC	RCV000410755.1,